The Importance of Genetic Testing For Epilepsies - Nazanin Azarinejad Mohammadi
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Show Notes
Neuroscientist Nazanin Azarinejad Mohammadi discusses her research on epilepsy genetics, the clinical and functional characterisation of GABAA-receptor related disorders, and how mutations in the GABAA-receptor subunits can lead to epilepsy and morbidities. Nazanin also highlights the variability in symptoms among individuals with the same mutation and the need for further research to understand the factors that contribute to this variability. Plus, emphasised is the importance of genetic testing and personalised treatment for patients with these mutations.
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Paper: “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” 👇
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🔗 Website & more about Nazanin 👇
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Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 https://www.epilepsysparks.com/glossary
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