CURE SYNGAP1 PODCAST aka SYNGAP10

Friday, April 3, 2026 - Week 14 Just back from the DSC-III Kickoff Meeting! As announced back in September 2025. Really strong group of clinicians. https://dsc.rarediseasesnetwork.org/patient-advocacy-groups More on DSC in #S10e184 https://curesyngap1.org/podcasts/syngap10/dsc-rdcrn-ncats-nih-press-aav-in-cell-srf-at-cb-scramble-for-syngap1-s10e184/ We will have sites at SYNGAP1 established doctors, Dr. Wiltrout at Boston Children's Hospital/Harvard, Dr. Holder at Baylor and our very own ProMMiS Doctors: Knowles at Stanford / Dr. Abbott at Colorado. AND, excitingly, these two new locations: Rush University Medical Center (Rush) led by Dr. Dr. Liz Berry-Kravis. University of Alabama at Birmingham led by Dr. Martina Bebin. Interestingly we are paired with PMS aka SHANK3 so the comparisons will naturally arise. Both post-synaptic, they are a half step ahead of us. (We will catch up!) SHANK3 and SYNGAP1 have lots in commons: PSD, Synaptic Plasticity, mTOR. Differences, we have more epilepsy, they have more Catatonia (see Table 2 in Trelles 2026 https://pubmed.ncbi.nlm.nih.gov/41895438/). After that I met with Dr. Xin Tang from BCH who is working on some exciting potential therapies and then over to CAMP4, who is moving at light speed. ILAE Rare Epilepsy Big Data Task Force for 4 years! Makes me think about data… Where does SYNGAP1 Data Live? Citizen.Health Retrospective ProMMiS Clinical Rare-X PRO Now the DSC will have both Combined Brain Registry and EEG Database. In Argentina SYNGAP1 Registry, potentially expanding to Chile and Colombia. In the EU there is PATRE part of EURAS. In the UK, it seems largely via NHS. In China, I don’t know but this paper shows us someone has 99 people: https://pubmed.ncbi.nlm.nih.gov/41914539/ Where else? SYNGAP1 is having a moment, we need project manager volunteers. SPRINT FOR SYNGAP1, EVERYWHERE – 21 days - $132k! Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 55 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 183 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 22. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,822 LinkedIn. https://www.linkedin.com/company/curesyngap1 1.55k YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP closed at $4.47 today. https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 203 of #Syngap10 #CureSYNGAP1 #Podcast

Thursday, March 26, 2026 - Week 13 Thanks for NL50 Ed! cureSYNGAP1.org/NL50, I listened to Episode 1 and, as it turns out, it was March 12, 2021 (five 5️⃣ years ago), and it’s evergreen. SEVEN THINGS YOU NEED TO DO TO BE READY FOR CLINICAL TRIALS Stay Connected to CURE SYNGAP1. Fill in the Connect Form https://curesyngap1.org/connect Have an annual call with Lauren Subscribe to the CURE SYNGAP1 Podcast everywhere and to our YouTube Know your mutation, have your genetic report. Memorize it or get a tattoo. Sign up for our Natural History Studies. Looking forward: ProMMiS https://curesyngap1.org/prommis/ (Also helps you figure out travel) Looking back: Citizen Health https://www.citizen.health/ai-advocate/syngap1 Participate in Research, get your mutation affirmed and published. Join the CB BioRepository https://combinedbrain.org/roadshow Give samples early and often, like me last week: https://www.linkedin.com/posts/graglia_syngap1-syngap-ciliopathy-activity-7441907768468451328-xhzb Do Surveys Educate yourself, start with these two blogs. https://curesyngap1.org/blog/emerging-medicines-syngap1-related-disorders-primer-comparison-glossary https://curesyngap1.org/blog/preparing-for-syngap1-clinical-trials-what-families-need-to-know Extra Credit: Collect your EEGs. Get them from everywhere you have been (check Citizen to be sure) Keep them handy on a google drive… like this: https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=share_link Upload them to the CB EEG Repository. Email Lauren for info #S10e123 https://curesyngap1.org/podcasts/syngap10/the-more-we-own-our-eegs-the-sooner-we-get-a-biomarker-simple-and-remember-to-get-dinner-tickets-for-the-conference-s10e123 Super Extra Credit: If you have a missense, intronic or other weird mutation. We should make a cell line which will allow further study. These cost ~$10k each, so we need to do a fundraiser, but we can help. #S10e SPRINT FOR SYNGAP1, EVERYWHERE – 29 days Get on the map! https://curesyngap1.org/calendar/sprint4syngap-2026 INAUGURAL SF NIGHT OF IMPACT, CA – 63 days Join us this is our only Gala for 2026! cureSYNGAP1.org/SF26 5TH SCRAMBLE FOR SYNGAP, SC – 191 days Classic case of a small event becoming an institution! cureSYNGAP1.org/Scramble26 SYNGAP1 Awareness Must watch this episode of Kelly and Kyle. Careful with those ASMs that challenge bone growth… https://curesyngap1.org/bones PUBMED Pubmed 2026 is at 18. Some great papers, but will discuss later. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,786 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,540 YouTube. https://www.youtube.com/@CureSYNGAP1 11.1k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.75 on 25 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10 Episode 202 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, March 6, 2026 - Week 10 WHAT DO WE NEED $ FOR? I talked in Episode 197 #S10e197 about scientific priorities, and in Episode 200 #S10e200 about areas of activity beyond science grants. All of this is what we need to fund. SPRINT FOR SYNGAP1 Sprint for SYNGAP is coming fast– 49 DAYS. Make a difference. Raise some money. Get on the map! Text sprint26 to 71777 https://curesyngap1.org/calendar/sprint4syngap-2026/ INAUGURAL SF NIGHT OF IMPACT Also to raise funds, please join us in SF on May 28th. 83 DAYS. Thanks to the organizational team Justin, Zoe, Ed, Jessica, etc. cureSYNGAP1.org/SF26 NHS Matter I talked in episode 198 #S10e198 about the importance of natural history studies. Check out this paper on Zuvenersen from Dravet to understand the long-term impact these studies could have. https://www.nejm.org/doi/full/10.1056/NEJMoa2506295 Join ProMMiS and Citizen Health. SHOUTOUTS Rosie Davilla on Univision curesyngap1.org/rosie2026 - https://www.univision.com/local/dallas-kuvn/syngap1-el-diagnostico-que-cambio-la-vida-de-rosie-en-texas-video #RareDiseaseDay Talks Emily Barnes @ Quiver; Paulina and Brian Sheehan @ Third Rock; Mike @ SparkNS; John Hill & Allison CNBC Cures. Beata’s double header SYNGAP1 Stories. Part 1. https://curesyngap1.org/podcasts/syngap1-stories/beata-tarasiuk/ DSCIII In addition to Colorado Children’s & Stanford we are now in a study at Boston Children’s, Rush and U Alabama aka UAB. Attending kick off for this at the end of the month. DATES TO TRACK Scramble for Syngap - 5th annual on October 3 in S. Carolina in 211 DAYS cureSYNGAP1.org/Scramble26 Conference in Denver CO! 271 DAYS. Sponsorship options in our #Prospectus for industry are available here https://curesyngap1.org/prospectus Science Day - cureSYNGAP1.org/SD2025Videos Family Day - cureSYNGAP1.org/FD2025Videos See our entire library of webinars & videos on YouTube youtube.com/cureSYNGAP1 BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our [email protected] PUBMED Pubmed 2026 is at 12, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Two particularly cool papers: HDAC Inhibitors https://pubmed.ncbi.nlm.nih.gov/41777621/ A positive missense causing cognitive resiliencehttps://pubmed.ncbi.nlm.nih.gov/41777621/ SOCIAL MATTERS 4,732 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,535 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.59 on 5 Mar. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 201 of #Syngap10 #CureSYNGAP1 #Podcast

Wednesday, February 25, 2026 - Week 9 Thank you Virginie, Eric & Paulina for being in Cold DC right now with the Everylife Foundation! https://www.linkedin.com/posts/curesyngap1_raredc2026-syngap1-curesyngap1-activity-7432425642295586816-IVDQ NATURAL HISTORY STUDY Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS And now the Citizen Health App on iOS https://www.linkedin.com/posts/graglia_your-advocate-is-now-with-you-in-every-moment-activity-7432260543748579328--dva Board meeting… key message, we are much more than fundraising, grants and patient support. Here is our list of non-grant projects. Fundraising Regulatory - Industry Regulatory - FDA Clinical Trial Readiness Standard of Care Patient Engagement Health Economics https://www.linkedin.com/posts/graglia_the-economic-impact-of-caregiving-for-individuals-activity-7431827551574011904-HvA4 Global Coordination Next steps with NALL Patient Support Next steps with Nortriptyline BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our [email protected] FUNDRAISING - SPRINT4SYNGAP Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links: Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26 Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 9, just like last week but am I seeing some amazing manuscripts! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18) SOCIAL MATTERS 4,700 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,530 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $4.70 on 24 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 200 of #Syngap10 #CureSYNGAP1 #Podcast

Tuesday, February 17, 2026 - Week 8 We are flat out, thank you to the team who work full-time on SYNGAP1: VM KAH LP PP & KF. CLINICAL TRIAL DESIGN We are Angelman-like. (Rett also) https://aesnet.org/abstractslisting/differentiating-key-symptoms-of-angelman-syndrome-as-and-syngap1-via-caregiver-reported-and-us-claims-data-to-understand-differences-between-how-providers-and-caregivers-view-impacts-on-patient-care Dravet or Angelman? Phase 1/2 is when we try it all. EEGs and NHS help with this effort. BIOSAMPLES & EEGs! Biorepository needs more samples. Check out the list and map here https://combinedbrain.org/roadshow/ and contribute both blood & EEGs. The data and research we do with these samples is invaluable. Let us know if you are going, email our [email protected]. (Stay tuned for another exciting device study…) NATURAL HISTORY STUDY Sign up for Citizen Health cureSYNGAP1.org/Citizen and ProMMiS cureSYNGAP1.org/ProMMiS NHS Survey in English: https://curesyngap1.org/SurveyProMMiS & Spanish: https://curesyngap1.org/encuestaProMMiS Latest Pod on NHS: https://youtu.be/7W38uWKBIAw?si=lCrffwMXidmYWz7t FUNDRAISING - SPRINT4SYNGAP Sprint is April 25 - our calendar page - cureSYNGAP1.org/Sprint - has all the information in the following links: set up your team - cureSYNGAP1.org/Sprint26 resource guide for your event - cureSYNGAP1.org/S4SGuide webinar #99 to help get you started - cureSYNGAP1.org/S4S25 Also, May 28, San Francisco, CA: cureSYNGAP1.org/SF26 Scramble for Syngap - 5th annual on October 3 in S. Carolina cureSYNGAP1.org/Scramble26 PUBMED Pubmed 2026 is at 9! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date (Remember we had 18 in all of ‘18) Cool connection to #PraderWilli Syndrome. https://www.linkedin.com/posts/graglia_syngap1-praderwilli-autism-share-7429579885985296385-zuIH ETC - More warriors cureSYNGAP1.org/Warrior - Dr. Donlin-Asp Press Release cureSYNGAP1.org/PR42 see talk here https://www.youtube.com/watch?v=lR8qcZK-9ro - Bravo Sara Driscol and GeneDx https://www.linkedin.com/posts/genedx_beyondawareforrare-ugcPost-7427763511235248129-QPPL?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE SOCIAL MATTERS 4,686 LinkedIn. https://www.linkedin.com/company/curesyngap1 1,520 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1 $CAMP stock is at $3.85 on 17 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 199 of #Syngap10 #CureSYNGAP1 #Podcast

Thursday, February 5, 2026 - Week 6 Happy #RareDisease & #BlackHistory Month! #NaturalHistory means how this disease progresses. Reminder: We have only been at this for 17 years, first patients were identified via Hamdan, 2009. https://pubmed.ncbi.nlm.nih.gov/19196676/ Retrospective Digital NHS: cureSYNGAP1.org/Citizen (Growing list of tools available to families, for free) Prospective Multi-disciplinary Multi-site NHS: ProMMiS cureSYNGAP1.org/ProMMiS Reminder, only possible by CS1 support for non-CHOP sites and travel plus huge gift to Penn. https://www.chop.edu/news/25-million-gift-penn-medicine-and-children-s-hospital-philadelphia-establishes-center-epilepsy Potential for being a control arm in the future. Protocol: https://www.linkedin.com/posts/curesyngap1_syngap1-stxbp1-dee-activity-7425223573134327808-SVEQ & early data: https://pubmed.ncbi.nlm.nih.gov/40119723/ Join the ~160 families who have enjoyed excellent clinical care and contributed tot he future of SYNGAP1. Today, a 4 month old is going! CHOP: 119 new, V2- 67, V3- 32, V4- 10, V5- 4 CHCO: 37 new, V2- 7 Stanford: 8 new, V2- 2 Total: 164 (double counting one family who goes to multiple sites) Survey English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS 94 Responses to survey, so far: Why not? Did not receive an invitation, Too far to travel, Too expensive Barriers: Logistics, Cost, Time off, Behaviors, Insurance ETC. Pubmed 2026 is at 6! But will soon be 7 with the McKee paper! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood. The data and research we do with these samples is invaluable. May 28, San Francisco, CA: cureSYNGAP1.org/SF26 SOCIAL MATTERS 4,668 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,520 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.59 on 5 Feb. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 198 of #Syngap10 #CureSYNGAP1 #Podcast

All US Families, please take the time to fill out the ProMMiS Survey. It takes 5 minutes. It's super important. Even if you haven't been there, we need your feedback. English: https://curesyngap1.org/SurveyProMMiS Spanish: https://curesyngap1.org/encuestaProMMiS Our funding priorities for 2026 are Genetics, Behaviors & Isoforms. https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-grants-activity-7421952845693788160-EHeK Pubmed 2026 is at 6! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date Coolest paper on Pubmed… GC rich areas were missed, so not only do we need to push for testing, but also REtesting. https://pubmed.ncbi.nlm.nih.gov/41577710/ Bravo to CURE SYNGAP1 Poland (please send me a shirt) & thank you to CAMP4 Event: https://www.linkedin.com/posts/curesyngap1_it-was-a-day-to-remembera-perfect-combination-activity-7422379922578587648-wNBP Don’t move to or from US/EU/LatAm etc. This question keeps coming. Please stay where you are and advocate like crazy. Set up CURE SYNGAP1 [Your location] Biorepository needs more samples. Check out the list and map here https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit?usp=sharing and contribute blood. The data and research we do with these samples is invaluable. Annual update to Champions of Hope! https://curesyngap1.org/champions-of-hope/ May 28, San Francisco, CA: cureSYNGAP1.org/SF26 SOCIAL MATTERS 4,661 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,520 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.83 on 27 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 197 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 16, 2026 - Week 3 Stoke Phase 3 Rapid Recruitment - A timeline that is ours to beat! https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-updates-timelines-completion If Marcin can make it from Poland, you can make it from where you are! cureSYNGAP1.org/Marcin CAMP4 Website is great and features Dani Williams! https://www.camp4tx.com/ Newsletter is out! https://cureSYNGAP1.org/NL49 Sara Driscoll Genetic Testing Story - Share it or copy it! https://cureSYNGAP1.org/GenTest Pubmed 2026 is at 3! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2026-2026&sort=date SOCIAL MATTERS 4,604 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,510 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $5.78 on 15 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 196 of #Syngap10 #CureSYNGAP1 #Podcast

Saturday, January 10, 2026 - Week 2 Here are key talking points to reference when talking about SRD. Please let us know your thoughts about how these could be better. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing SOCIAL MATTERS 4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,500 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 195 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 9, 2026 - Week 2 Big news in SYNGAP-land, Becky Quick and Matt Quayle have a beautiful SynGAPian named Kaylie & they are launching CNBC Cures! - Wonderful to have more awareness of SYNGAP1, I hope it leads to more diagnoses. - My two favorite quotes from the episode and podcast: “There is no Mission without Money”-BQ & “She has reset our whole life plan…one day I’m going to be gone and is Kaylie going to be ok?”-MQ - Here is our page with all the links! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-cnbccures-activity-7415094066675216387-32wF curesyngap1.org/kaylie It's important for us all to remember that it can take time to find our voice. And then use it. Speaking of using our voice, what can you say? We worked yesterday on Key Talking points which will live here and I will talk about them in the next episode. https://docs.google.com/document/d/1lXaDQEVwF1K_yAU-RicaJibxb8xoJtldSvnVgopwu00/edit?usp=sharing First paper of 2026, Challenges of Caregiving in SYNGAP1, STXBP1, and TSC. https://pubmed.ncbi.nlm.nih.gov/41405416/ PUBMED is at 1 for the year. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date SOCIAL MATTERS 4,546 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,500 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.20 on 8 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 194 of #Syngap10 #CureSYNGAP1 #Podcast

Friday, January 2, 2026 - Week 1 #SynGAPCensus = 1,707 https://curesyngap1.org/blog/syngap1-census-2025-update-32-q4-2025-1707/ From the Cantor Report on CAMP4 The Stockdale Paradox. The best way to succinctly describe CAMP4 and the parties driving progress in this field (Cure SYNGAP1, families, researchers) is, for anyone familiar with Jim Collins' book "Good to Great," they have fully embraced the "Stockdale Paradox": To succeed in difficult circumstances you must 1) confront the brutal facts (severity of the disorder, devastating impact on patients and families, lack of treatment) while 2) maintaining unwavering faith that you can and will prevail in the end. It gives us conviction that there WILL be a therapy approved for SYNGAP sooner than later and CAMP is most likely to deliver it. Read more on Jim Collins site: https://www.jimcollins.com/concepts/Stockdale-Concept.html This is exactly what SYNGAP1 Argentina achieved at our conference. Acting with certainty that they can and will prevail. Check out their exceptional flyer: https://drive.google.com/file/d/1O_DldABKTkB9ZLIiUBqXGBMrtlzie-7i/view?usp=share_link PUBMED is at 59 for the year, that is +4 over our best year, last year. 177 since 2022, almost half of our SYNGAP1 Knowledge (366) has been created in the past 4 years! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date #20Posters Speaking of publications, I talked about 16 posters at AES this year and shared on LI, but I was wrong in the responses I realized we are up to 20! https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru Mutation Tattoo Story https://www.linkedin.com/posts/shriya-bhat-0b845b203_at-a-patient-advocacy-meeting-in-nashville-activity-7409304451821277184-TO0t SOCIAL MATTERS 4,529 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,500 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.00 on 2 Jan. ‘26 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 193 of #Syngap10 #CureSYNGAP1 #Podcast

Saturday, December 20, 2025 - Five days till Christmas, 11 days left to raise funds to CURE SYNGAP1 AES was exceptional in many ways, here are a few: Rare & SYNGAP1 were both very visible, posters with our Logo and names of staff were seen! Posters: https://www.linkedin.com/posts/graglia_syngap1-curesyngap1-activity-7408291479187755008-rMru Our conference was standing room only and had investors! Even got a mention in their research report! https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-reiterates-overweight-rating-on-camp4-therapeutics-stock-93CH-4403281 ProMMiS Launch was a massive win for patients. Collaboration. Praxis and Lundbeck recruited for exciting drugs and CAMP4 talked about their ASO and recruiting next year. Our community's presence was felt well into AES. Aaron's post on growth! https://www.facebook.com/aaron.j.harding.5/posts/pfbid0231DtMVUtkZa4eXLv8C8qbf4xEN95aRP1xJ8sGNNvun7aDuUyZVatMWUjjigdXfg1l Pre-register now for Denver: cureSYNGAP1.org/Pre26 Fundraising. We are YTD $1.68M which is below $1.86M in ’23 and $1.97M in ’24. We need to really double down on fundraising for the next two weeks and into next year. Support our campaign at curesyngap1.org/unlock ACTION ALERT 🚨Call Bernie and urge him to help children at NO COST to the USG by supporting the PRV. (202) 224-5141 https://www.linkedin.com/posts/christine-waggoner-71b1555_mibagents-makeitbetter-osteosarcoma-activity-7408186315592085504-A6AY PUBMED is at 58 for the year, that is +4 over our best year, last year. 187 since 2022, more than half of our SYNGAP1 Knowledge (365) has been created in the past 4 years! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2026&timeline=expanded&sort=date SOCIAL MATTERS 4,519 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,490 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $6.38 on 19 Dec. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Like and subscribe to this podcast wherever you listen. https://curesyngap1.org/podcasts/syngap10/ Episode 192 of #Syngap10 #CureSYNGAP1 #Podcast

#CyberMonday, December 1, 2025. Week 49. Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy. Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t& Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158 Amazon: ​​https://a.co/d/imfxmwG See you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ SOCIAL MATTERS 4,474 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.80 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Episode 191 of #Syngap10 #CureSYNGAP1

Happy Thanksgiving… Thursday, November 27, 2025. Week 48. Continued from #S10e189… And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/ https://curesyngap1.org/blog/ Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead https://curesyngap1.org/resources/webinars/ 119 - 112 Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS. https://curesyngap1.org/podcasts/syngap1-stories/ A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. https://www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-7387203351907708928-liNL CLINICAL TRIAL & GENETIC MEDICINE CORNER Example of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. https://www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-7389647402690957312-Bihi Congrats to Novartis on approval of the first Gene Therapy to Cure SMA! https://www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840-Ocd_ Remember Spinraza was approved in December 2019. TODOS Sign up for Citizen Health: https://www.citizen.health/partners/srf USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ SOCIAL MATTERS 4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Episode 190 of #Syngap10 #CureSYNGAP1

Happy Thanksgiving… Thursday, November 27, 2025. Week 48. https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin. Check them out, screen for both. See what you can do! Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet! MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX ProMMiS - Meet committed clinicians, get great care and build the future of SYNGAP1 clinical medicine. Upcoming Stanford enrollment dates: December 10–11, 2025: 2 slots, February 25–26, 2026: 2 slots, May 27–28, 2026: 2 slots to enroll email [email protected] GIVING TUESDAY 1 week to go. Set up an Unlock fundraising page now and send it out BEFORE Tuesday December 2nd! cureSyngap1.org/unlock or for more info: https://curesyngap1.org/podcasts/syngap10/time-to-unlock-their-tomorrow-raise-funds-camp4-our-name-s10e188/ Video: https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-activity-7399492685474009088-DXWI CONFERENCE - Record Headcount over 20% increase: Scientific: 237 & Caregiver Connect: 180 (of which 26 patients) - Agendas are up: https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/ - Volunteer with us: [email protected] PAPERS PUBMED at 52, and low. Clinical research! 181 / 359 = more than half of the knowledge on S1 in the past 4 year! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date Movement disorder comparison: https://www.medrxiv.org/content/10.1101/2025.11.04.25339413v1.full.pdf SLEEP - SRD Patients are the worst https://pubmed.ncbi.nlm.nih.gov/41138043/ aligned with CSH paper https://pmc.ncbi.nlm.nih.gov/articles/PMC8472329/ TODOS Sign up for Citizen Health: https://www.citizen.health/partners/srf USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ SOCIAL MATTERS 4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube. https://www.youtube.com/@CureSYNGAP1 11.2k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Episode 189 of #Syngap10 #CureSYNGAP1

Sunday, November 9, 2025. Week 46. End of year campaign: UNLOCK THEIR TOMORROW, curesyngap1.org/unlock Why now? UNLOCK It’s giving season. Count our blessings and share what we have. CS1 has moved mountains this year: Staff, ProMMiS, etc. But we are just starting… Every single family should give and should solicit their friends. Yes, it’s a tough time. Yes, people have other causes. No (most of) your friends don’t have a SynGAPian. Miss 100% of the shots you don’t take. And remember, donors learn about what they give to, so even small donations cause huge changes in awareness. Go to our Champions page: https://curesyngap1.org/champions-of-hope/ Tony, Myla, Hattie, Jansen, Kai, Sophia, Kaylie, Gracie are at $50k+. Eight families. It’s only five at $100k+. I think we can do better. I also think we should have more participation at every level, we can’t lean on a handful of families to carry this organization. These families get something key: CURE SYNGAP1 is in it for the long run, unlike EVERYONE ELSE you are supporting. Great that you are doing schools, horses, girl scouts, etc, but the only people asking you for money right now that are going to be fighting for your kid in 5, 10, or 50 years, is CURE SYNGAP1. The only group who won’t kick your family/loved one out of our community when your SynGAPian bites one of our staff or elopes from a meeting across streets. Also us. The people who understand SYNGAP1 the best. Right here. Technicals, we could not make this easier! Take 5 minutes to build your own fundraiser or simply email friends/family/co-workers/church associates/other kids’ sports team parents/etc. It’s uncomfortable but essential. It’s so darn easy to give - 💻 ONLINE @ CURESYNGAP1.ORG/UNLOCK Use Credit Card, PayPal, Venmo, Google & Apple 📱 PHONE - Text UNLOCK to 71777, then follow the instructions. 📬 MAIL A CHECK CURE SYNGAP1, PO Box 515734 Los Angeles, CA 90051-5150 Two more questions: ?1: Aren’t we done now with CAMP4? No. Three reasons: Clock, Count, unknowns. Clinical research. Behavioral interventions. Optimal medications. Missense research. Patient discovery. Drug repurposing. Family support. Global coordination. ?2: Our name is a demand: CURE SYNGAP1, and we are not there yet. SRF suggested that funding science was enough, boy were we wrong. We need patients to be Support. Educate. Activate. Coordinate. I discussed the many ways a PAG matters in #S10e181. (I missed data & should have clinical separate, will redo.) https://curesyngap1.org/podcasts/syngap10/patient-advocacy-groups-matter-party-friday-syngap1conf-soon-elopement-s10e181/ Every single family needs to help us raise funds. Every single one. SOCIALS 4,426 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,480 YouTube. https://www.youtube.com/@CureSYNGAP1 11k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ $CAMP stock is at $4.25 on 7 Nov. ‘‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ Episode 188 of #Syngap10 #CureSYNGAP1

Saturday, October 25, 2025. Week 43. Time to advocate, ELF on the Hill, support available, apply now: https://www.linkedin.com/posts/everylifeorg_were-excited-to-join-everyone-on-capitol-activity-7384625926333943808-mO1U/ PUBMED at 47, and low. Clinical research! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date - CHOP EEG ProMMiS ​​https://www.neurology.org/doi/10.1212/WNL.0000000000214148?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed - COMMUNICATION #ORCA https://acamh.onlinelibrary.wiley.com/doi/full/10.1111/jcpp.70063 Doing surveys gets us into papers like ORCA, helps us raise awareness of SRD. This one on AI is really interesting: https://redcap.tch.harvard.edu/redcap_edc/surveys/?s=YFHYH7T7LTPAL44X Newsletter #47 https://mailchi.mp/curesyngap1.org/unlock-their-tomorrow-issue47 IPM on SRD AAV https://www.insideprecisionmedicine.com/topics/precision-medicine/gene-therapy-reverses-syngap1-brain-disorder-symptoms-in-mice/ NYT Take on #Autism is very good, thank you Azeen Ghorayshi Split the Autism Spectrum: https://www.nytimes.com/2025/10/01/health/autism-spectrum-neurodiversity-kennedy.html?unlocked_article_code=1.q08.NXEA.fg5ulHeTHUeJ&smid=url-share quotes Jackie K, explores argument for Profound & Severe Autism as a category. Our own Jackie Kancir has a great substack, listen to it in her voice here: https://jkancir.substack.com/p/autism-is-not-my-daughter-nor-her Tylenol: https://www.nytimes.com/video/science/100000010414944/trump-pushes-unproven-link-between-tylenol-and-autism.html Sign up for Citizen Health: https://www.citizen.health/partners/srf CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU SOCIALS 4,417 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,470 YouTube. https://www.youtube.com/@CureSYNGAP1 11k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ Episode 187 of #Syngap10 #CureSYNGAP1

Friday, October 3, 2025. Week 40. #SyngapCenus 1,675 https://curesyngap1.org/blog/syngap1-census-2025-update-39-q3-2025-total-1675/ Rachel J. made an educator handout https://curesyngap1.org/blog/supporting-students-with-syngap1-related-disorders/ Sign up for Citizen Health https://www.citizen.health/partners/srf CC/VNS Research w/ Citizen https://www.linkedin.com/posts/citizen-health-inc_syngap1-dee-raredisease-activity-7378823288950575105-YjP3 Rhymes with recent publication from Dr. Perry on Dravet https://www.tandfonline.com/doi/full/10.1080/14737175.2025.2562118 Citizen AI Advocate avail. for SYNGAP1 families https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-raredisease-activity-7378443770201047040-ORGj $CAMP starts GLP Tox https://www.linkedin.com/posts/camp4-therapeutics_syngap1-activity-7379142427149881344-cBFE CF initiates coverage at Overweight https://www.investing.com/news/analyst-ratings/cantor-fitzgerald-initiates-camp4-therapeutics-stock-with-overweight-rating-93CH-4268395 $CAMP $2.98 at close on 10/2 https://www.google.com/finance/beta/quote/CAMP:NASDAQ CIRM funds SYNGAP DISC0-17998 grant proposal from Iris Medicine team, in collaboration with Dr. Gene Yeo’s team (UCSD) https://www.cirm.ca.gov/about-cirm/newsroom/press-releases/cirm-approves-73-million-in-awards-for-discovery-research/ Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A CURE SYNGAP1 Conference 2025 Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ USE YOUR ICD-10 F78.A1 e185 https://www.youtube.com/watch?v=dale0NbxDpU SOCIALS 4,381 LinkedIn. https://www.linkedin.com/company/curesyngap1/ 1,450 YouTube. https://www.youtube.com/@CureSYNGAP1 11k Twitter https://twitter.com/cureSYNGAP1 45k Insta https://www.instagram.com/curesyngap1/ Episode 186 of #Syngap10 #CureSYNGAP1

Wednesday, October 1st, 2025. Week 40. SYNGAP1 Related Disorders secured an ICD-10 code exactly four years ago today, through the advocacy of SRF and the hard work of volunteers like Hans Schlecht. Our code is F78.A1 Blog: https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ Check out #S10e8 to learn more: https://www.youtube.com/watch?v=tZ5s5rQawXg Read the case study: https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Hear from other leaders: https://effieparks.com/podcast/episode-224-the-complicated-world-of-icd10-codes-with-ceo-and-co-founder-of-slc6a1-connect-amber-freed Why does it matter and where are we now? It helps us find patients and it helps doctors and companies find YOU. We aren’t where we should be. Dr. Lal’s sobering post: https://www.linkedin.com/posts/dennis-lal-71a8988a_raredisease-epilepsy-precisionmedicine-activity-7373307411383857152-dQS0 Preprint: https://www.medrxiv.org/content/10.1101/2025.09.12.25335652v1.full.pdf TABLE 1. List of monogenic epilepsies with a syndrome-specific ICD-10 code, associated genes, and code implementation dates. Syndrome ICD-10 Code Gene Effective Date21 Rett syndrome F84.2 MECP2 10/01/2015 Glucose transporter protein type 1 deficiency syndrome (GLUT1-DS) E74.810 SLC2A1 10/01/2020 Cyclin-dependent kinase-like 5 deficiency disorder (CDD) G40.42 CDKL5 10/01/2020 Dravet syndrome G40.83 SCN1A 10/01/2020 SYNGAP1-related intellectual disability (SYNGAP1-ID) SYNGAP1 F78.A1 10/01/2021 MED13L syndrome Q87.85 MED13L 10/01/2023 Phelan-McDermid syndrome Q93.52 SHANK3 10/01/2023 SLC13A5 citrate transporter disorder E74.820 SLC13A5 10/01/2024 KCNQ2-related epilepsy G40.84 KCNQ2 10/01/2024 Kleefstra syndrome Q87.86 EHMT1 10/01/2024 5 Conclusion Syndrome-specific ICD-10 codes for monogenic epilepsies are markedly underutilized, even for patients with confirmed molecular diagnoses and established clinical syndromes. In our cohort, fewer than two-thirds of eligible patients were ever documented with their syndrome-specific ICD-10 code, and when used, these codes were applied inconsistently across encounters, specialties, and time. Such gaps hinder the reliable identification of patients for precision therapies, clinical trials, and research studies, limiting the intended value of these codes. Although uptake of syndrome-specific ICD-10 codes showed gradual improvement over time, additional efforts, including automated and patient-driven coding support and integration of structured genetic data, are needed to ensure accurate and consistent use. Broader, multi-institutional studies will be essential to validate these findings and to guide strategies that maximize the clinical and research utility of syndrome-specific ICD codes as precision medicine advances. Who else got them? New DEE Codes effective 10/1/2025! https://www.cdc.gov/nchs/icd/icd-10-cm/files.html #FOXG1 Q04.8 https://www.foxg1research.org/news/foxg1-syndrome-icd-10-code #Kabuki Q87.0 #USP7 Q87.87 https://www.linkedin.com/posts/foundation-for-usp7-related-diseases_were-proud-to-share-an-important-milestone-activity-7375555189539348480-77n3 #CTNNB1 Q87.88 https://www.linkedin.com/posts/ctnnb1_ctnnb1-connectandcure-ctnnb1syndrome-activity-7376633308836683777-fRYC #SCN2A QA0.0101 https://www.scn2a.org/from-advocacy-to-action-scn2a-now-has-its-own-icd-10-code/ #CACNA1A QA0.0102 https://www.linkedin.com/posts/cacna1a-foundation_huge-milestone-for-our-cacna1a-community-activity-7358883822282653696-xWr5 #SLC6A1 QA0.0131 https://www.linkedin.com/posts/slc6a1connect_raredisease-icd10-genetics-activity-7374801222056411136-wmAZ #STXBP1 QA0.0141 https://www.stxbp1disorders.org/news/stxbp1-has-an-icd-10-code #DLG4 QA0.0149 #Usher H35.5 CombinedBRAIN Rent a Neuro: https://combinedbrain.org/rent-a-neuroscientist/ CB Slide on ICD-10: https://docs.google.com/presentation/d/1wys1RLbJWBtK9eh7xSd_Lm-xwqbeZMSnM7xcCQznE8M/edit?usp=sharing Everylife Roadmap: https://everylifefoundation.org/icd-code-roadmap/ REN ICD-10 page: https://www.rareepilepsynetwork.org/about-icd-codes EVENTS! Scramble this weekend in Greer, SC! https://donate.curesyngap1.org/event/scramble-for-syngap-2025/e667451 Conference on Dec 4 & 5 in Atlanta, don’t miss. https://donate.curesyngap1.org/event/cure-syngap1-conference-2025-hosted-by-srf/e661355 CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/ SOCIAL MATTERS - 4,376 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,450 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,285 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 185 of #Syngap10 #CureSynGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, September 26, 2025. Week 39. In this episode of Syngap10, we continue the conversation from Episode 183, sharing the latest milestones and moments with our SYNGAP1 community. DSC has announced! DSC (part of RDCRN, part of NCATS, part of NIH) also announced and continues to raise profile of SYNGAP1 Related Disorders (SRD) Key post https://www.linkedin.com/posts/curesyngap1_86-million-nih-grant-renews-support-for-activity-7373870761230589952-aV1M #RDCRN List with #DSC https://ncats.nih.gov/research/research-activities/rdcrn/consortia In addition to that, the DSC was formally announced, and will result in five years of SYNGAP1 securing a spot on the map. This was because of an SRF grant years ago! Grant https://curesyngap1.org/blog/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital/ Pubmed is at 44! (+2 v ‘23, -10 v ‘24, 2nd place) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc Cell Paper on AAV in Mice: https://www.linkedin.com/posts/boaz-levi-07387741_aav-delivery-of-full-length-syngap1-rescues-activity-7376306391537532928-iT9u Last week was a CB Conf in Nashville, attended by KAH and VA, thank you to both. KAH in Staff yesterday, the hardest thing is not seeing Joey. ☹️ Thanks to MS for going too. MS https://www.linkedin.com/posts/melissasmith1_raredisease-patientadvocacy-syngap1-activity-7374408667091333120-Udp0/ KAH https://www.linkedin.com/posts/kathryn-syngap-research-fund_the-combinedbrain-conference-in-nashville-activity-7374639535021928448-gWB4 Two big upcoming events: Scramble in SC on October 4th https://www.linkedin.com/posts/julie-miles-4294322ba_scramble-for-syngap-activity-7370558331611971585-iw0A CURE SYNGAP1 Conference 2025 in Atlanta https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ SOCIAL MATTERS - 4,371 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,440 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,292 Twitter https://twitter.com/cureSYNGAP1 - 45k Insta https://www.instagram.com/curesyngap1/ COMPANIES WITH NAMED ASSETS FOR SYNGAP1 $CAMP $3.00 at close on 9/23 Episode 184 of #Syngap10 #CureSYNGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, September 26, 2025. Week 39. In #S10e182 I told you about CAMP4, don’t miss that, watch here: https://www.youtube.com/watch?v=PZ0Oj-Zz-B0 Sharing research comments from William Blair & Wedbush William Blair Initiation of Coverage: “Among several quality investors, the private placement included the Syngap Research Fund, which is active in the Syngap1 patient community and will be an important resource in aiding patient identification and enrollment in the Phase 1/2 trial in our view.” Wedbush Ph1/2 Will Likely Begin From Ex-U.S., Aiming for Early Intervention. Citing precedents of other intrathecally delivered antisense oligonucleotide programs for CNS indications, where the FDA oftentimes required sponsors to begin at a dose level well below the efficacious dose, CAMP plans to begin patient dosing outside the U.S. for the potential to go directly to doses that are expected to show efficacy. The selection of patient age range will depend on regulatory discussions, and management highlighted the impact of the disease on neurodevelopment, so early intervention could allow patients to have a better opportunity to achieve as normal as possible development. CAMP Will Have Access to Natural History Data being Collected by SRF and CHOP. According to management, a natural history study is being conducted by SynGAP Research Fund (SRF), which also participated in the private placement, in collaboration with Children's Hospital of Philadelphia (CHOP), and CAMP will have access to data as well as patients for future clinical study enrollment. Donate now: https://curesyngap1.org/donate/ Beacon of Hope was a great success, raised over $100k. We need to do this every year. Thanks to Navarros for getting this launched, also to SJ, Emily Barnes, Peter Halliburton, & Kathryn Helde who helped make this event incredible. Emmy’s video (top of) https://curesyngap1.org/resources/movies/ Blog: https://cureSYNGAP1.org/Beacon25 (will be live Friday night 9/26) Pairs well with Gala Blog: https://curesyngap1.org/Gala25 Research is non-stop: - CRID, get one. https://curesyngap1.org/blog/every-syngap1-related-disorders-patient-needs-a-crid/ - ProMMiS, incredible coordination meeting today. Sign up. https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - Sign up for Citizen Health too! AI Advocate is live for us an awesome. https://www.citizen.health/partners/srf Episode 183 of #Syngap10 #CureSYNGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, September 10, 2025. Week 37. CAMP4 Press Release: https://www.linkedin.com/posts/caleb-moore-4382704_syngap1-activity-7371545171047628800-zVqR Let me tell you a story: EW Story, concern over viability of C4. Easy to follow financials, Mrkt Cap and Net assets of ~$40M. Net income/EBITDA of -$12.6M in Q2. Running Phase I / II trials and ramping up for Phase III, not cheap. They need more than they had and capital is hard to get in this market. But here is the good part, the data is solid, the team is strong, and the SYNGAP1 Ecosystem is excited to have a first mover. SRF was thrilled to be invited, not just because we believe in C4, but because we wanted to send a meaningful signal to other investors that we are working closely with C4 and are eager to support their success. I believe that our investment, while modest, sent that signal and helped this raise become oversubscribed. The board worked hard on this one. Now for hard questions: Are we conflicted? No. We will transparently share info about all trials for products with good data. ( See #S10e172 for ASGCT Data https://youtu.be/9xO1TcO1Eus ) Will other companies be upset? Unlikely. Stoke and Praxis are the only companies publicly working on SYNGAP1 that are close to this point and they are not worried about financial viability, but if they do want to do a raise for their SYNGAP1 program, they should certainly call us. What will other companies think? Indeed we are de-risking the disease by showing that our kids are modifiable with ASOs which are the majority of the therapies in scope. This is a huge favor to others looking at this space. Isn’t this taking a risk with our funds? Depends. But if it is, it’s a risk worth taking. Remember we are the smallest investor, we only committed up to $1M, so other professional biotech investors put in $99M. What was the process? C4 came to us, we decided it was worth talking to the board who had multiple discussions but we said yes in less than a week and that was last week. When is the trial? 2H26 Less than a year from now. With this financing, I am sure of it. As I write this, the $CAMP stock closed up $0.80 or +40%. Which is solid. The market is starting to agree with the wise investors and SRF! Yes we need a cure. https://www.linkedin.com/posts/curesyngap1_savekramerdavis-activity-7371607032807763968-PVfG See you Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 SOCIAL MATTERS - 4,311 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,430 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,286 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ Episode 182 of #Syngap10 #CureSYNGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Sunday, September 7, 2025. Week 37. Why does CURE SYNGAP1 aka SRF matter? Do PAGS make a difference? Heck yes. Empower Families - Support. Educate. Activate. Coordinate. Use Money Catalytically - Tax advantage. Pool. Manage. Make Catalytic. Focus. Manage. Partner with Science & Medicine - Push forward. Connect efforts. Focus on Tx. Work in Clinic. Leverage Ecosystem. Industry. PAGs. Superpags (CB, GG, ELF). Ensure Continuity. Our kids will outlast us. Our energy wanes. Life happens. Cure SYNGAP1 never stops focusing on the biggest challenge in our lives: SRD. Because you VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ Gala video: Look at those faces.https://www.youtube.com/watch?v=d6dCSBq27Gc Friday: Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble 📺 TV Interview! https://www.wspa.com/your-carolina/scramble-for-syngap-2/amp/ Conference is in 88 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Register (97 done!) Need to register for the conference? Do that here: cureSYNGAP1.org/Reg25 Get a Room (Deadline 11/3 – Will sell out) Need a hotel room? Use our block here: cureSYNGAP1.org/GATech Get Friday Dinner Tickets we are going to AltaToro https://altatoro.com/ (20 already sold!) Register here: cureSYNGAP1.org/Din25 SHARE BLOOD TO THE SRF BIOBANK 🩸https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow #Elopement (See #S10e178 https://www.youtube.com/watch?v=OiRnXxh0wfY) https://people.com/boy-rescued-from-hersheypark-monorail-is-on-the-autism-spectrum-says-rescuer-11802782 https://www.facebook.com/NationalAutism/posts/pfbid02MqviB8pfYpm8QMw5ASqp9XMQY2MsL7mVcJSfeLmzsHLHBAt9bBDjfuqdg2awXAtsl 3rd Scientific Congress in Spanish Oct 11 virtual 9-1:30 ET, 8-12:30 in Colombia https://curesyngap1.org/calendar/tercer-congreso-cientifico-syngap1-en-espanol/ Register at cureSYNGAP1.org/Congreso3 SOCIAL MATTERS - 4,306 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,430 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,286 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ Join Citizen Health! Last count we were at 275! https://www.citizen.health/partners/srf Pubmed is at 42! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 181 of #Syngap10 #CureSYNGAP1 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, August 29th, 2025. Week 35. 5th Annual Gala was a great success! cureSYNGAP1.org/Gala5 Sad to miss it? Join us in Boston or South Carolina. Deadline for Boston is 9/3 for tickets. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble SRF is active in Lisbon at #IEC2025 thank you KD, JA, VA! Hi Dr. Knowles! We are at Booth #17 https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM #Bexicaserin News: New data from the PACIFIC Study, LP352-202, Open Label Extension (OLE) will be presented at the 36th International Epilepsy Congress (IEC) in Lisbon, Portugal (Aug 30 - Sept 3, 2025). The full results of the open label extension (OLE) of the Phase 1b/2a PACIFIC trial investigating bexicaserin for the treatment of patients with Developmental and Epileptic Encephalopathies (DEEs), will be presented for the first time at the International Epilepsy Annual Congress Bexicaserin, which has been granted Breakthrough Therapy designation by the FDA, demonstrated reductions in countable and total motor seizure frequency in the extension study comparable to reductions seen in the Phase 1b/2a PACIFIC trial, reinforcing durability of response and validating its progression to Phase 3 trials. Additional data will be presented from the audiogenic seizure model and the GAERS absence epilepsy model, investigating sudden unexpected death in epilepsy (SUDEP), and seizure reduction respectively. During the OLE, a median reduction of 59.3% in countable motor seizure frequency was observed, with 55% of participants experiencing reductions of ≥50% compared to the baseline before the PACIFIC trial. This trial, EMERALD and other studies all at https://curesyngap1.org/resources/studies/ See and comment on Vicky’s recent post on her 7 year SYNGAP1-iversary: https://www.linkedin.com/posts/victoria-arteaga-26913433_syngap1-familyjourney-resilience-activity-7366951726001606657-6pcM Join Citizen Health, we are at 275! We should double that. https://www.citizen.health/partners/srf DSCIII Renewed to include SYNGAP1 alongside TSC, SHANK3 (aka PMD) and PTEN. CFC Starts on 9/1 https://curesyngap1.org/events/fundraisers/combined-federal-campaign-2025/ 🔥🌡️ Syngapians don’t like the heat. Conference is in 96 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Pubmed is at 39! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc SHARE BLOOD TO THE SRF BIOBANK AT CB! https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,299 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,420 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,298 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 180 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, August 22nd, 2025. Week 34. The 5th Annual Gala is happening now! https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-galaforsyngap1-activity-7363593302312402944-W_TZ cureSYNGAP1.org/Gala5 Sad to miss it? Join us in Boston or South Carolina. Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble Stoke Therapeutics indicates they will have a target for SYNGAP-1 in 2026! https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-2025-financial-results 12 Aug 2025 “Lead optimization is underway to identify a clinical candidate for the treatment of SYNGAP-1 in 2026. SYNGAP-1 is a severe and rare genetic neurodevelopmental disease.” Just over 20 FDA approved Oligos and siRNAs today. We are still so early. https://www.advancingrna.com/doc/moving-beyond-solid-phase-synthesis-the-momentum-of-oligonucleotide-manufacturing-0001 Congrats to Monica E. & Grann Therapeutics, seeing a child dosed for the first time with a novel medicine was remarkable. https://www.grannpharma.com/press-releases The SYNGAP1 Village: How Extended Family Can Provide Vital Support https://curesyngap1.org/blog/syngap1-village-extended-family-can-provide-support/ Here’s a fun topic to discuss with your family, brain donation. https://www.autismbrainnet.org/ 55yo with Dravet, lots of insights, Brava to Dr. Andrade and team! https://onlinelibrary.wiley.com/doi/10.1111/epi.18613 SRF joins with CHOP, Wistar and other Philly-area research institutions with a letter to urge legislators to reject NIH cuts. 8/20/25 Letter can be viewed in SRF Public-facing drive https://drive.google.com/file/d/1HHmCAuRYAQxb_1DtMtkQTz3H8__g9zKq/view?usp=drive_link Philadelphia Inquirer picked up the story 8/20/25 https://www.inquirer.com/health/medical-research-institutions-reject-nih-cuts-20250820.html More on #Elopement: Alarms, Roofs, Resonated. Keep talking to doctors about this. Post is up to 139 Votes, percentages little changed, join the conversation on FB. https://www.facebook.com/groups/syngap/posts/1734514154096968/ #S10e178 - https://www.youtube.com/watch?v=OiRnXxh0wfY Conference is in 103 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Pubmed is at 38! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc SHARE BLOOD TO THE SRF BIOBANK AT CB! https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,285 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,420 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,294 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 179 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Tony (11, M) Story. Now we sleep with the alarm on every night. Elopement: involves leaving a safe or supervised area without permission. poses a risk to the individual's safety. can occur in various settings. is a common behavior in individuals with ASD. Virginie (10, M) Stories and Service Dog. Single Mom (9, M) heading to the judge and calls me asking for papers. Here you go… Let’s note that Elopement was masked behind broader buckets and I think this is a miss. We need to name and discuss this very challenging behavior. FB Survey. 4 hours. 100+ votes, 100 comments. https://www.facebook.com/groups/syngap/posts/1734514154096968/ 76% of respondents eloped (35% F, 41% M) 24% didn’t (17% F, 7% M) 11 F, no elopement at home - but sometimes tries to elope while at school. C ( has always been an eloper - kid has a sixth sense for when someone leaves the door unlocked C elopes and age 16 years old H 9 girl constantly running away B-7.5 years old Girl - 3 Fourteen. She doesn't anymore, but used to. Not to the degree that other families struggle, but we definitely had to keep an extra close eye/ear. Had bells on all our doors, etc. Did get a call from our neighbor once while I was making dinner saying that S had just walked into her house, that she was safe, and was helping to give their baby a bath. Thankfully they were very good friends and took it in stride. (S was about four at the time.) Boys age 7. He has for awhile Boy, age 8.5. Just started eloping more so recently, in the last year. 11, girl Boy age 15 13 year old girl Girl-3 Ty 10 elopes since he can walk. It’s our biggest problem. Boy age 8 but has been doing it for a while Age 7, girl. Boy - 14y/o Boy age 9… he’s a track star! Boy age 12, has eloped since he could walk/run. It probably peaked around age 6 and got better with meds. Elopement is less frequent now but scarier now that he’s older and higher. Boy 10. Always has wandered and will still now run off knowing he’s not suppose to Any chance he gets 13 My boy (22 y/o) always was and is now a master of escape, he can hear if I turn the key in the door, front door has an alarm fitted just in case Boy , 25 the risk is high because he looks typical 25 yo female, requiring alarms, cameras,and specialized door locks. In a state that says that these measures are unlawful restraint and invasion of privacy Frazier, 2025. Extremely High finding as a Symptom of SYNGAP1. See Table 2 of Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16112 McKee, 2025. Notes the significantly heightened enrichment of Autistic Behavior and Behavioral Abnormality vs. Rett, Angelman or Epilepsy cohorts. See Figure 2B of Clinical signatures of SYNGAP1-related disorders through data integration. https://www.gimjournal.org/article/S1098-3600(25)00066-8/abstract Cunnanne, notes impulsivity (which is a euphemism for elopement if I have ever heard one) and has three quotes in Table 1 (see below), but also notes in Figure 2 that both ASD and lack of danger awareness came up in almost every interview. See SYNGAP1-Related Intellectual Disability: Meaningful Clinical Outcomes and Development of a Disease Concept Model Draft. https://papers.ssrn.com/sol3/papers.cfm?abstract_id=5098346 Impulsivity quotes: Runs toward streets - “He wouldn't stop himself from running into the road. He climbs things in that house that you're like‘oh my god, how are you going to get out of that?’” Jumps into pools - “He would walk into a pond. We were at the pool the other day…and he just walked off the edge and just fell into the water and was like… he would have just drowned.” Runs toward crowds - “She was a bolter. So that was always scary. We had a few scares where you look away for a moment, I mean, we always had somebody with her, but it could be a moment's time and it's like where'd you go, you thought she was right there.” FUNDRAISING 3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5 Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble Also, Conference is in 107 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ STUDIES - MATTER https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing Pubmed is at 37 (One a week!) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,283 LinkedIn. https://www.linkedin

Friday, August 8th, 2025. Week 32. CURE SYNGAP1 aka SRF is getting more complex daily, and this is a good thing. Today: Event planning, DCM Advising, Patient Advocacy Connecting, Infrastructure building, Conference Preparation. DCM - Cunnane: https://pubmed.ncbi.nlm.nih.gov/40494056/ Blog on DCM: https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ My comments at the 2024 Conference: curesyngap1.org/resources/webinars/webinar-103-m-syngap1-conference-family-day-2024-whats-next/ PRESS Neuren on #NNZ2591 https://www.linkedin.com/posts/curesyngap1_neuren-adds-syngap1related-disorder-to-nnz2591-activity-7359712115668013057-2-HX CAMP4 in IPM https://www.linkedin.com/posts/camp4-therapeutics_in-conversation-with-josh-mandel-brehm-ceo-activity-7359584335202541570-X-MX FUNDRAISING 3 events in 3 states… https://mailchi.mp/curesyngap1.org/3-events-1-mission-support-syngap1-families-this-fall?e=e95ed9a1c4 Gala for SYNGAP1 August 22, 2025 - Farmingdale, NJ cureSYNGAP1.org/Gala5 Beacon of Hope September 12, 2025 - Boston, MA cureSYNGAP1.org/Beacon25 Scramble for SYNGAP October 4, 2025 - Greer, SC cureSYNGAP1.org/Scramble Also, Conference is in 117 Days https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ STUDIES - MATTER https://docs.google.com/presentation/d/1yRPHMRY3pXPgbOacDM9Sr906VejdJWsonUWvqRD9VVI/edit?usp=sharing Pubmed is at 32 (One a week!) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,265 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,410 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,304 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? Next New Family Webinar - Tuesday Sept. 9th, 2025, 5 PM Pacific scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Resources https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 177 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wed July 30, 2025 Audience: Any family with a DEE who has a kid who has seizures, yes SYNGAP1 is a DEE and you are always my first audience. See #S10e133 if you are curious about DEE vs other names. https://curesyngap1.org/podcasts/syngap10/what-is-this-syngap1-illness-disease-syndrome-ndd-dee-mrd5-nsid-actually-called-s10e133/ Action: If your kid has motor seizures, fill out the screener and join this amazing study. Link here: https://www.resiliencestudies.com/emerald A motor seizure is a seizure where you can see something moving – including head drops, drops, convulsive, etc. – only excluded seizures are absence, myoclonia and infantile spasms. You don’t need to figure this out, just fill in the screener, let the doctors figure it out. Questions: Come to live webinar tomorrow, it will not be recorded, so you have to come register here: https://curesyngap1.org/resources/webinars/webinar-111-introduction-to-praxiss-emerald-study-for-syngap1-patients/ TRIAL. Any DEE patient with 4 motor seizures a month, minimum. Age 2-65. Adults are you listening? 24 weeks (6 months) weeks, placebo controlled but everyone will get drug at some point in the trial. 28 weeks (7 months) week OLE, with a chance for expanded access, so if it works, you can stay on. Fully decentralized, you don’t have to go to a site if you don’t want to. One US site open so far in Bethesda, there will be others. Int’l sites in 2026. US ENROLLING NOW. DRUG. Lots of science and big words in the links below, but here is what you need to know as a parent. It’s a liquid, can go oral or in a g-tube. There is no ramp up, you put it in and it works. In terms of speed, think Lorazepam not Lamotrigine. It’s potent and specific, which means small volume. Roughly 1ml for 10 kg. This will be a rounding error in the face of a normal SynGAPian med regime. Even though this is a sodium channel drug, it should benefit all DEEs b/c, good to clarify tomorrow, all seizures end with a hyperactive sodium channel firing and that is what Relutragine focuses on. PRAXIS. Serious people, lots of work on Epilepsy. Connected to SYNGAP1 and DEEs, just need to move faster on SYNGAP1 ASO! CSO is Steve Petrou, works with SRF AUS and knows they are waiting. KD and AN started a company for SCN2A and it was absorbed by Praxis, they are still there and are relentless. Work on both small molecules and ASO, this is a way for them to see our team in action. Cool links: AES 2024 Story. https://eppro01.ativ.me/web/page.php?page=session&project=AES24&id=2894147 Embold read out: https://www.neurologylive.com/view/relutrigine-shows-promise-phase-2-embold-study-scn2a-dee-scn8a-dee FDA Breakthrough. https://www.globenewswire.com/news-release/2025/07/17/3117145/0/en/Praxis-Precision-Medicines-Receives-FDA-Breakthrough-Therapy-Designation-for-Relutrigine-for-the-Treatment-of-Seizures-Associated-with-SCN2A-and-SCN8A-Developmental-and-Epileptic-E.html More links. https://delta.larvol.com/Products/?ProductId=05ccb036-a308-4249-abf6-e03b120839da Why am I doing this? We need better meds and the way to meds is through trials. We need to jump at every trial, every time. 3. This one is decentralized, so minimum burden. If you get in now, this will be over before it’s ASO trial time, so you could do both. Our Syngapians with motor seizures tend to be our most severe, we have to make sure we find out if this drug can help. All our kids may progress to this point. See you at the webinar, fill out the screener now: https://www.resiliencestudies.com/emerald

July 16, 2025. Week 29. What is a natural history study (NHS)? And why do we care? We care because we haven’t done this before, heal those born with disease. Natural history studies, which examine the progression of a disease over time, can be either retrospective or prospective. Retrospective studies analyze existing data, like medical records, while prospective studies collect new data over time. Both types are valuable for understanding a disease's course and informing research and treatment strategies. ⁠NHS are critical for clinical trial design. Size and Quality matter. Validated scales are better than PROs regardless of what the current rhetoric is. What’s going on now? USA - https://curesyngap1.org/resources/studies/syngap1-ProMMiS/ - 135+ over three sites, some with FOUR visits, and counting - Adding GCP - Collaborating with world class institutions and excellent clinicians at Stanford, Children’s Colorado and, of course, CHOP. USA - https://Citizen.Health/partners/srf has almost 300 patients! Retrospective Health Data. USA - https://rare-x.org/syngap1/ is where we collect PROs. Australia - Dr. Sheffer is running a study, talk to her or Dani. Latin America - SYNGAP1 Argentina with others joining. Europe - https://www.patre.info/syngap1/ Key takeaways for Industry SYNGAP1 is well positioned to work with… Vlasskamp and Wiltrout are published, Citizen Health is growing & ProMMiS is truly exceptional – and growing, and Rare-X is collecting eight key PROs. Additionally, there are significant international efforts in Australia, Latin America & Europe. Census: https://curesyngap1.org/blog/syngap1-census-2025-update-55-in-q2-2025-total-1636/ If you are in industry and thinking about starting another NHS for your asset, please don't. Please instead partner with existing PAGs and NHS studies in your key geographies to move faster, have bigger N and not waste precious patients time, we need to accelerate drug development not slow it down by diluting patients and clinicians between too many studies. Baseline papers on SYNGAP1: 1998 - Huganir - SynGAP: a synaptic RasGAP that associates with the PSD-95/SAP90 protein family - https://pubmed.ncbi.nlm.nih.gov/9581761/ 2009 - Michaud - Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation - https://pubmed.ncbi.nlm.nih.gov/19196676/ 2013 - Carvill - Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 - https://pubmed.ncbi.nlm.nih.gov/23708187/ 2019 - Vlasskamp - SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy - https://pubmed.ncbi.nlm.nih.gov/30541864/ 2023 - Rong - Adult Phenotype of SYNGAP1-DEE - https://pubmed.ncbi.nlm.nih.gov/38045990/ 2024 - Wiltrout - Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism - https://pubmed.ncbi.nlm.nih.gov/38470175/ Pubmed is at 28 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/ SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,238 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,400 followers with 575 Videos on YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,302 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 175 of #Syngap10 #RareDisease #PatientAdvocacy #SYNGAP1 #SynGAP #ProMMiS

July 7, 2025 Week 28 ADAMS CAMP https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ CENSUS & WHY WE WILL SEE MORE PATIENTS AAP recommends Whole Exome as a first line test for GDD/ID. https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_ SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is. https://curesyngap1.org/census/ https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0 First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still? WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/ Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking. Martina - First patient from Uruguay. SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories IMPORTANT SRF POSTS Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ VOLUNTEER SHOUT OUT Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close. CONFERENCE - DECEMBER 4th & 5th Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June! WEBINAR #108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars PRESS RELEASE https://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/ WHY OUR RESEARCH MATTERS Bowie Lab Talk on Glutamatergic Neurons. We learn about Intelligence from studying ID. https://www.youtube.com/watch?v=sfcN2BuZOJw NUMBERS PUBMED 334, 26, so -1 vs. weeks. Follow on Youtube and LinkedIn, they matter. https://www.linkedin.com/company/curesyngap1/ 4,221 https://www.youtube.com/@CureSYNGAP1 1,390 #S10e173 CORRECTION I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline. NICOLE’S POST I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son. Dear Syngap, It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me. I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace. One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go. You make him miserable. And I hate you for it. You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears, when his body betrays him, when he fights a battle most will never see. People don’t see

It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/ CAMP4 Update - Hear it from them, in our US or EU Webinar. US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ Amlexanox and Cool Science Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/ Inaugural New Family Webinar Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ STUDIES - MATTER ORTAS (need many, 27 signed up, 8 completed.) https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/ BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/ “Dear Families, This is a brief update on the Communication abilities in Children with Genetic Conditions study. The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions. We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available. With best wishes, Harriet and the Communication abilities in Children with Genetic Conditions study team.” PRESS JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/ Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/ Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/ Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/ NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45 FUNDRAISING Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/ MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate Liam https://donate.curesyngap1.org/campaign/696438/donate Story https://donate.curesyngap1.org/campaign/695981/donate Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate Pubmed is at 24 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068 Cunnane DCM is out and Ingo noticed! https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,380 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,314 Twitter https://twitter.com/cureSYN

Sunday May 18, 2025. Week 21 Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ CAMP4 Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl To get these Therapies to kids the NHS data is key, ProMMis CHOP - Email them [email protected] Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/ Citizen Health https://cureSYNGAP1.org/Citizen is at 267, why not 300? Hopkins article featuring SRF - Competition is good for the patient FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl LI https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB ASGCT Mouse poster for Q504X from the JAX, Dr. Matt Simon Conf Video https://www.youtube.com/watch?v=loYXkkTSUIY Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan What about this guy? Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo More incredible news https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge REPURPOSING Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap #Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ Butyrate Update https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper. SunButyrate https://a.co/d/7kiHXS8 PUBMED 328 total with 20 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub SRF Fundraisers MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/ Well done to Tavilla and Jones! We are over $221k Tavilla clears $160k for Sprint. https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255 Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated. Amazing and thank you to Krispy Kreme. https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677 SRF PROFILES Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/ Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

Email: [email protected] about this study! Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands. All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults! It’s worse. There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important. BTW, soon we will have treated and untreated! Dr. Andrade and her team are the best in the world. Dravet/SCN1A is “the one” Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults… https://pubmed.ncbi.nlm.nih.gov/33677403/ https://pubmed.ncbi.nlm.nih.gov/28186331/ https://pubmed.ncbi.nlm.nih.gov/22780858/ She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/ We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/. Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8 CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/ So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same. So… this is our moment. Please let us know how we can help you to finish these questionnaires: [email protected] Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada

Friday, April 25, 2025 - DNA Day Good luck at Sprint tomorrow. $194k at this moment. WODC Readout Saw friends (Hebbian Bio, Unravel, Ana M, Balaji) and families (HM AN E) RH Drug talk - https://youtu.be/Hpj72nMFfZc?si=dLVdeRNhVLfjCSar. (Other Family Day Presentations from SYNGAP1 Conference in LA are on YouTube https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2) Read out in a panel where we had to really talk through small molecule (broad - LB) vs precision (narrow C4/STK) and broad (Tevard). ASO Update: Trials need heterogenous populations. At first, I expect we will be looking for PTVs beyond the first 3 or 4 exons. Once approved, or in subsequent trials, I assume it will be available more broadly but not at first. Trials are coming, take notes and videos. Press Release on Roadmap: https://www.linkedin.com/posts/graglia_progress-in-syngap1-therapeutic-development-activity-7321668845495066624-1dDn Oliver's Warrior Story - https://curesyngap1.org/syngap-warriors/oliver/ Sign up for the conference: 222 Days! https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/ Impact Report Webinar can be watched in its entirety as well as in segments - 18 of them to cover most of the topics discussed are being added to our YT channel at https://www.youtube.com/playlist?list=PLjpr3a14_ls3OvtdFahBr4wAa8BL7aUkv Effie on TJB https://www.linkedin.com/posts/graglia_well-deserved-kudos-for-dr-terry-jo-bichell-activity-7321280877068541952-9f_1 CB Blood Drive this weekend in TN. Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ Newly Diagnosed Resources: https://cureSYNGAP1.org/Resources

Tuesday, April 15, 2025 – Week 16 CURRENT NEWS #Sprint4Syngap 2025 is in eleven days! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $167,979 of which $145k+ fromTavillas! Board Announcement: https://www.eurekalert.org/news-releases/1080490 LEARNING ABOUT SYNGAP1 ProMMiS NHS Webinar from Dr. McKee: https://youtu.be/zozwf1NDB5I we were waiting for this great paper: https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668 which I discussed in #S10e167. Also, learn from Dr. Knowles, Apple Pod: https://podcasts.apple.com/us/podcast/stanford-medcast/id1529672674 YT https://youtu.be/VBWa0FklYJs Catatonia, watch these when you can: https://www.linkedin.com/posts/activity-7316937356194844672-PoUi/ Please ask me your ASO Questions - https://www.youtube.com/watch?v=1I0sRVZTY-A For instance, these won't repair, but they will will upregulate... = make work harder. MORE NEWS In #S10e168 I talked about Drs Bowie & Willsey, this week I can applaud Postilla! https://www.linkedin.com/posts/inflames-research-flagship_making-sense-of-missense-in-a-rare-children-activity-7316376546833833986--Qoc/ SIBLINGS Tell your story, please for the other ones. https://curesyngap1.org/syngap-siblings/shanaye-worth/ https://curesyngap1.org/sibling-support/ PUBLICATION COUNT PubMed is at 17 YTD, 325 in total (trending to 52+, but I’m not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,009 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,369 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://cureSYNGAP1.org/SRFApple https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 169 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, April 9, 2025 – Week 15 Condolences to the Brimsek family and thank you John & Tobi for all your support. We just shared an interview with our board member and John’s son-in-law, Eric Moulton https://cureSYNGAP1.org/Stories Trip Report, two crazy days. Many takeaways. Trials may be coming soon. If there is a trail, sign up. Every time. [email protected] Do the Frazier Study and do the follow-ups! https://curesyngap1.org/eye2 Global as well. Australia, UK, Canada, please help. We are busy too! DiMe announcement just came out https://www.linkedin.com/posts/curesyngap1_new-project-announcement-children-with-activity-7315615778366537728-c-gU Census is 1,581! https://curesyngap1.org/blog/syngap1-census-2025-update-q1/ Impact report has a webinar! https://cureSYNGAP1.org/Impact Both featured in Newsletter #44 - https://cureSYNGAP1.org/NL44 Monday 4/14 we have a webinar - Natural History & Clinical Trial Readiness - with Dr. McKee https://cureSYNGAP1.org/Jill We have one space available in Colorado on May 20, 2025, email [email protected] to sign up. Other blog about the CB Roadshow, please join us there https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ And the Polish Community speaking out about ASO trials: https://curesyngap1.org/blog/aso-choice-for-hope-syngap1-voices-from-poland/ #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces, $66,383 https://www.youtube.com/watch?v=IW7owIsdjss Bowie - Our funding goes far: https://www.eurekalert.org/news-releases/1078836 remember in July 2022 https://www.eurekalert.org/news-releases/960181 Also see this from CZI, featuring SYNGAP1 in Dr. Willsey’s work https://www.czbiohub.org/life-science/unlocking-biology-autism/ PubMed is at 17 YTD, 324 in total (trending to 52+, but I’m not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 3,996 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,334 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,391 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 168 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Wednesday, March 26, 2025 – Week 13 #S10e166 was remarkable, #UnMetNeed https://www.youtube.com/watch?v=rut1q0LzdtA, with almost 600 views this is the best S10 episode, ever. Don’t miss it, or the comments. Feel free to add to them! One of the things we did was make a CTR Survey, we have 130+ respondents, half US, half ROW - Poland and Australia. Not too late to take part: https://forms.gle/tx5CUWXiQMDcJhHA8 Since CHCO PR in #S10e164, we have had two more: Dallman & Sohal PR36 for GI meds: https://curesyngap1.org/blog/julia-dallman-awarded-grant-for-syngap1-research/ PR37 for Cognition meds: https://curesyngap1.org/blog/dr-vikaas-sohal-ucsf-receives-syngap-research-fund-grant-for-syngap1-therapeutic-strategies/ #Sprint4Syngap 2025 is in one month! Start or join a team and fundraise! https://curesyngap1.org/sprint25 look at these faces https://www.youtube.com/watch?v=IW7owIsdjss Getting to know our community: - Syngap Stories Podcast - KAH in Episode 32 https://cureSYNGAP1.org/Stories - Cafe SYNGAP1 with Jaime https://curesyngap1.org/podcasts/cafe-syngap1/jaime/ - Sibling Story with Kallen https://cureSYNGAP1.org/Sibling - DW of SRF AUS https://www.facebook.com/reel/1345989426605772 - Why Attend Cure SYNGAP1 Conference Video https://cureSYNGAP1.org/Pre25 - Tomorrow Webinar #100 Impact Report (3/27) https://cureSYNGAP1.org/IR24 PubMed is at 13 YTD, 321 in total (trending to 52+, but I’m not as confident) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc Jillian McKee and CHOP team paper on SYNGAP1 now in Genetics in Medicine (https://www.sciencedirect.com/science/article/abs/pii/S1098360025000668) but you can get the Preprint: https://www.medrxiv.org/content/10.1101/2024.10.02.24314452v1.full.pdf This paper was built on Citizen Health data, remember to sign up/refresh, early and often: Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3 Thank you for the 15 glowing reviews of SRF on Great Nonprofits! https://www.cureSYNGAP1.org/GNP VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 3,971 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,311 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,427 Twitter https://twitter.com/cureSYNGAP1 - 46k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 167 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories. This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. SRD is slow moving, but suddenly changing and completely enervating. Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age: Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros Medication changes can cause issues such at rage Long-term side effects, e.g., bone health issues, from chronic medication use Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialists (Neuro, Psych, Primary, supplements, etc.) Some go to challenging non-pharma options: Not to mention tube feeding, keto diet, and neuro surgical options like VNS/CC as well as hip surgery for severe gait. Behavioral & ID: Our kids have enough physical ability to make behavior very challenging: Pain and behavior compounded by being non-verbal as they grow Violence against family—bites and scratches Violence against self, just sheer frustration Elopement & no sense of danger as a constant stress/burden ABA can be helpful if the team is high caliber but often fails due to staffing, rigidity, insurance or lack of skill. Family: Toll on caregivers & family is a heavy cost that is rarely counted: Almost all of our kids have severely disrupted sleep and that is a form of torture for the whole family. Exhaustion from the diagnostic journey, assessments, and caregiving. Marriages fall apart under the pressure. Nobody can care for our kids—no respite, no support, schools fail. Parents are afraid to die, fearing what will happen to their children. Siblings are the last to be noticed but first affected. Emphasize: The patients are very complex, the system isn’t working, families are in crisis, and they need real solutions. Parents will travel: We’ve had 100 patients go to CHOP from all over the USA, no cure here, just expertise. Example: the day I wrote this presentation I saw these 4 Facebook posts: VHM at CHOP https://www.facebook.com/virginie.herradormcnamar/posts/pfbid02NbqkEsH84XtaoNc8qma5LsPEsC16NVGmzgq6fXRb3opP4rGJjP2WjGkMUGhbBTjpl B at CHCO https://www.facebook.com/beata.tarasiuk.56/posts/pfbid0YJ4AxBuxtzoeqHyHHtwP5tLR8jGgRjxzxkJ CB at WCMC https://www.facebook.com/corey.baysden/posts/pfbid0c7RZtzm8hsB3k5mTGpmiXhaq7xzL9vLptfVn5FYZ8ZcFEuxqiYETHss7eUxpwo8Bl RR at UCSF https://www.facebook.com/permalink.php?story_fbid=pfbid02JvfR1G33tAg9XRZVXMidstcZYcEjzrqFeutvepYoPVb1RbjTEF1QCJj4kbDdScKQl&id=100088305909698 Episode 166 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Please give my video a watch and SAVE MEDICAID! Do it as if your child's life depends on it. I want to emphasize the importance of the current moment regarding Medicaid, not to alarm you, but to underscore the urgency of the situation. This is a critical time for the well-being of our loved ones, and the need to act has never been more pressing. For over 30 years, I’ve been advocating at the state legislature level and with congressional members, but the potential cuts to Medicaid we are facing now are unlike anything we've encountered before. We must work together to protect this vital resource. Your support could make a significant difference. To reach out to your Congressional Member consider these two resources: - Epilepsy Foundation: https://www.epilepsy.com/advocacy/advocate - ARC of US: https://p2a.co/lRPDZ5C What Medicaid means to your family: https://action.thearc.org/3jLx90b

Tuesday, March 11, 2025 - Week 11 CHCO Press Release https://www.linkedin.com/posts/curesyngap1_syngap1-prommis-research-activity-7305258171642654723-5h2e fill spots, email info@curesyngap1 dot org SYNGAP1 ProMMiS #SynGAProMMiS https://curesyngap1.org/resources/studies/syngap1-prommis/ Need your Voice on Unmet Need Please contact me with stories and permission to share. Mike@ PubMed is at 11 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&timeline=expanded&sort=date&sort_order=asc Willsey Lab on Gut Motility, congratulations to Kate McCluskey https://pmc.ncbi.nlm.nih.gov/articles/PMC11885846/pdf/41467_2025_Article_57342.pdf Citizen Health Data in there! https://www.linkedin.com/posts/citizen-health-inc_citizenhealth-autism-guthealth-activity-7304881198676197376-ng3v Citizen Health - https://www.citizen.health/partners/srf or http://curesyngap1.org/citizen Family Conf Video on Drug Repurposing https://www.youtube.com/watch?v=1S_A1jO28-c - Corey, Lindsay, Zoe and Earl. Thank you Lindsay. Unravel BioSciences Discussion/Podcast Short: https://www.youtube.com/watch?v=xcB8pv2lKRI Long: https://www.youtube.com/watch?v=CYb0ghaRKm8 LinkedIn: https://www.linkedin.com/posts/unravel-biosciences_raredisease-combinedbrain-drugdevelopment-activity-7302440189782540289-u4sl Bio-Repository and Roadshow Dates https://docs.google.com/presentation/d/1IjaHILXj7AlBDlbTJgvYrkBS_0bnI8VCnTIiPXJ7JGM/edit#slide=id.g32f5fa46d32_0_3 April 24-25th Nashville, TN June 14-15th Westminster, CO June 18-21th St. Louis, MO June 27-28th Phoenix, AZ July 10-12th Boston, MA July 18-19th Denver, CO July 19-20th Westminster, CO July 19-20th Windsor Locks, CT Sept/Oct TBD Philadelphia, PA Dec 4-5th Atlanta, GA Share glowing reviews of SRF on Great Non-Profits! https://www.cureSYNGAP1.org/GNP ICD-10’s as discussed in #S10e163 (https://www.youtube.com/watch?v=iDvW7HfzSGA) next meeting cancelled. Time to go for ICD-11s. https://www.cdc.gov/nchs/icd/icd-10-maintenance/meetings.html DoD Funding https://umdf.org/cdmrp_cuts_action/ #MEDICAIDCANTWAIT https://thearc.org/policy-advocacy/medicaid/medicaidcantwait/ Episode 164 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1 #SynGAP #SynGAProMMiS

Friday, February 28, 2025 - Week 9 Hope vs. Despair? Despair: NIH Cuts NBC https://www.nbcnews.com/science/science-news/trumps-nih-budget-cuts-threaten-research-stirring-panic-rcna191744 NYT https://www.nytimes.com/2025/02/25/briefing/president-trump-vs-medical-research.html?unlocked_article_code=1.0U4.-7WW.F3yrk2tjpLJe&smid=url-share FDA Staffing Cuts https://www.biopharmadive.com/news/fda-layoffs-trump-doge-hhs-cuts-impact/740499/ Medicaid Cuts https://www.disabilityscoop.com/2025/02/27/house-vote-tees-up-billions-in-cuts-to-medicaid-disability-services/31321/ https://www.politico.com/news/2025/02/27/republicans-medicaid-expansion-budget-00206612 President who doesn’t care https://time.com/7002003/donald-trump-disabled-americans-all-in-the-family/ DOGE head who also doesn’t care https://www.usatoday.com/story/life/health-wellness/2025/02/25/elon-musk-donald-trump-disabled-people/80112602007/ Hope: Pipeline https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/ Community https://curesyngap1.org/team/ Global: https://syngapglobal.net/ ICD-10 Code https://www.rareepilepsynetwork.org/about-icd-codes Disability is Political Take it or Advocate? Taking it does not work. Advocate: SRF https://curesyngap1.org/srf-legislative-advocacy-efforts-for-syngap1/ ELF https://everylifefoundation.org/ Research America https://www.researchamerica.org/marys-letters/research-advocates-unite-in-force/ Alliance for a Stronger FDA https://www.strengthenfda.org/ Modern Medicaid Alliance https://modernmedicaid.org/about-the-alliance/ Annie Kennedy’s comments at the ELF Capitol Briefing: https://www.youtube.com/live/F6kfKsYCQYU?si=ihWOl7Lda7Steg3p&t=3391 Responsibility to those who cannot or will not be here. 10% of Americans. 10k diseases, all chronic. Childhood. Do not have FDA approved treatments, no cures. Staggering Financial Costs aka Toxicities. Efforts to date have allowed for interventions that may still matter. We have invested so much. Episode 163 of #Syngap10 #Advocate #PatientAdvocacy #UnmetNeed #SYNGAP1

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162 Tuesday, February 25, 2025 - Week 9 ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS SPRINT4SYNGAP - April 26, 2025 Webinar: cureSYNGAP1.org/S4S25 Guide: cureSYNGAP1.org/S4SGuide LEVERAGE ON OUR GRANTS #Finland #Missense: https://www.linkedin.com/posts/graglia_kulttuurirahastontuella-skr2025-syngap1-activity-7296289488912191489-rWl-/?utm_source=share&utm_medium=member_desktop&rcm=ACoAAAAD8f4B7JC4TMss45Q8hrsq5kiceI0Z8HE STUDY OF THE WEEK - Email [email protected] Dreem: https://curesyngap1.org/resources/studies/beacon-dreem-eeg-device-study-in-syngap1/ Study Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing IMPACT REPORT NL43 cureSYNGAP1.org/NL43 ONLINE DID YOU KNOW We have a calendar now! https://curesyngap1.org/calendar/ Brochure is updated: cureSYNGAP1.org/Brochure YouTube - Adding Family Day Talks - https://www.youtube.com/playlist?list=PLjpr3a14_ls2ummdbWyUdvRpMcQBlRXy2 COMPANY OF THE WEEK - Stoke & Biogen! STK ($0.45Bn) partners with BIIB ($20.5Bn) https://investor.stoketherapeutics.com/news-releases/news-release-details/biogen-and-stoke-therapeutics-enter-collaboration-develop-and #SpecialNeedsTRAVEL e31 of SYNGAP1 Stories. Navarros - cureSYNGAP1.org/Stories Comments on YouTube are great, see this presentation by SRF’s Heather on travel… https://youtu.be/c7S7q_gK4Bk?si=wM4Ter_q8-37Yg8V RESEARCH UPDATE There are 318 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 10 (Coller included) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Frazier paper on NET: https://onlinelibrary.wiley.com/doi/10.1002/aur.3290 VOLUNTEER SPOTLIGHT Toby and John Brimsek are tireless. Thank you. https://curesyngap1.org/team/volunteers/emily-brimsek-phd/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1486227/full SOCIAL MATTERS - 3,937 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1.28k YouTube. https://www.youtube.com/@CureSYNGAP1 - 11.5k Twitter https://twitter.com/cureSYNGAP1 - 46.6k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 162 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, February 11, 2025 - Week 7 IMPACT REPORT IS OUT! Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/ Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/ STUDIES OF THE WEEK - BEACON DREEM https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/ COLORADO CHILDREN'S HOSPITAL - April & May https://curesyngap1.org/resources/studies/syngap1-clinic-at-childrens-hospital-colorado/ STANFORD ARTICLE ON SYNGAP1 SEIZURES https://stanmed.stanford.edu/epileptic-seizures-adaptive-myelination-damage/ Tweet: https://x.com/cureSYNGAP1/status/1889514629799506175 LinkedIn: https://www.linkedin.com/posts/curesyngap1_how-neural-insulation-can-amplify-epileptic-activity-7295282288462860288-mqke Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02cKdrA8FJJopumKZuQo55JafeCFjEPe5Kg2V1QpmJmJbqwNZ52Yfie4AfyeaZRAvul RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 8 (but reall 9 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Profiling Autism and Attention Deficit Hyperactivity Disorder Traits in Children with SYNGAP1-Related Intellectual Disability https://link.springer.com/article/10.1007/s10803-023-06162-9 ADVOCACY SHOUT OUT Feb 24-8 in DC! https://www.linkedin.com/posts/curesyngap1_advocates-rarediseaseweek-syngap1-activity-7293314918659854337-IUPx/ Learn from the greats: April 8 & 9 at St. Jude online https://stjudeptni.activehosted.com/index.php?action=social&chash=28dd2c7955ce926456240b2ff0100bde.111 IN THE NEWS - Terry P on Kelly Clarkson Show https://www.youtube.com/watch?v=yLcm0KcgZyc FUNDRAISING MATTERS Aaron: https://giving.classy.org/campaign/661441/donate You: https://curesyngap1.org/resources/webinars/99-sprint4syngap-2025/ 4/15 1pm PST CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 3,925 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,512 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 161 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, February 4, 2025 - Week 6 CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find doctors who want to learn and think, not dictate. STUDIES OF THE WEEK - FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Don’t underestimate this tool, please take part in this study. Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing ADVOCACY SHOUT OUT https://www.linkedin.com/posts/sara-driscoll-mba-pe-ab904b49_rdla-syngap1-advocacymatters-activity-7290475540266831873-L2su/?utm_source=share&utm_medium=member_ios REGULATORY UPDATE - Feb 4 at 4PM EST. https://www.epilepsiesactionnetwork.org/post/calling-all-epilepsy-stakeholders-join-an-update-on-the-national-plan-for-epilepsy EF on EPILEPSY Instagram - Facebook - LinkedIn - X RESEARCH UPDATE There are 317 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 7 (but really 8 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded James Clements paper is exciting: https://pubmed.ncbi.nlm.nih.gov/39878322/ JC LinkedIn: https://www.linkedin.com/posts/james-clement-chelliah_epigenetic-modulation-rescues-neurodevelopmental-activity-7290365551879569409-X_6G/ VOLUNTEER SPOTLIGHT Aaron Harding is tireless Donate: https://giving.classy.org/campaign/661441/donate Video - https://youtu.be/7LprhkhyU5I CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,550 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 160 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

Tuesday, January 28, 2025 - Week 5 STUDIES OF THE WEEK - ROCHESTER 3 We need 3 more 0-2 Year olds. https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/ NYU - CureSYNGAP1.org/NYU https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/ Tracker page: https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/edit?usp=sharing STUDY HUDDLE on THURSDAY! 1/30 noon ET - register cureSYNGAP1.org/StudyHuddle; main emphasis Rochester, Frazier, NYU COMPANY OF THE WEEK - Minovacca SRF put Neuro on their radar and now they are building a company. https://news.unl.edu/article/nebraska-based-startup-aims-to-improve-human-health-through-targeted-drug-delivery Press releases for Zempleni: https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-syngap1-related-disorders-srd-in-the-lab-of-professor-janos-zempleni-of-the-university-of-nebraska-lincoln-pr25/ REGISTER FOR BRAIN DONATION via https://www.autismbrainnet.org/ https://kevinmd.com/2025/01/how-postmortem-brain-research-is-changing-autism-science-podcast.html PATIENT ENGAGEMENT IMPROVES OUTCOMES https://globalgenes.org/report/announcing-early-and-often-reimagining-patient-community-engagement-to-improve-clinical-trials-feasibility/ RESEARCH UPDATE There are 315 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 4 (but really 5 if you count Coller) for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Huganir’s latest: https://pubmed.ncbi.nlm.nih.gov/39868300/ Coller with the Poly-A is out: https://www.cell.com/molecular-therapy-family/nucleic-acids/fulltext/S2162-2531%2825%2900007-1 Correction on China census paper, it was a review, we will not up the census. Note: Coller began working on SYNGAP1 with SRF support in 2022! See https://www.eurekalert.org/news-releases/966873 VOLUNTEER SPOTLIGHT Deanna N. Rorie nee Farley. Longest running SRF Volunteer ever. Big thanks for all the Warriors. CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 3,922 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,270 YouTube. https://www.youtube.com/@CureSYNGAP1 - 11,565 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 159 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1

RESEARCH UPDATE There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 2 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Census = 1,530! https://cureSYNGAP1.org/Census, China was only 113, but now they are 246! Check out these social posts on our https://cureSYNGAP1.org/SRFPaper https://www.linkedin.com/posts/curesyngap1_syngapresearchfund-syngap1-curesyngap1-activity-7285038902300569602-XTGJ https://x.com/cureSYNGAP1/status/1879272983077781804 https://fb.watch/x6KdWuLSA8/ STUDIES AND TRIALS ARE HAPPENING NOW https://docs.google.com/spreadsheets/d/1oQLNi85AUbISmcW0KbsgGn4cBK_4MNuvwGlKUUKLyIQ/ FUNDRAISING Coast2Coast Challenge $359,280 Syngap.Fund/C2C FUNDRAISE https://syngap.fund/FR #Sprint4Syngap is launching… https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2025 VOLUNTEER SPOTLIGHT Sara Driscoll - https://curesyngap1.org/team/volunteers/sara-driscoll/ CONFERENCE Pre-register now: December 4 & 5 – https://cureSYNGAP1.org/Pre25 VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 1,260 YouTube. https://www.youtube.com/@CureSYNGAP1 - 3,906 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 11,670 Twitter https://twitter.com/cureSYNGAP1 - 47k Insta https://www.instagram.com/curesyngap1/ - 464 TikTok https://www.tiktok.com/@curesyngap1 NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources Podcasts, give all of these a five star review! https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 158 of #Syngap10 #CureSYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1