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👉🏻 Listen to the podcast here: mcdn.podbean.com/mf/web/5xst3wmvtky52yam/174_ESI_N… (also available on Spotify, Apple, etc. Just type in “Epilepsy Sparks Insights”)
👉🏻 Transcript, more on Nazanin, an links to papers mentioned www.torierobinson.com/epilepsy-sparks-insights/naz…
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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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🎧 Listen to ESI on Spotify! 👇
open.spotify.com/show/14rwL06qUowezZQGwpR7GW?si=dE…
Also on Apple Podcasts or anywhere else you listen!
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Paper: “Clinical and functional characterization of GABAA-receptor related disorders: translating genetic diagnostics into personalized treatment” 👇
portal.findresearcher.sdu.dk/en/publications/clini…
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🔗 Website & more about Nazanin 👇
www.torierobinson.com/epilepsy-sparks-insights/naz…
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Chapters 📖
00:00 Intro and meet Nazanin
01:02 Clinical and Functional Characterization of GABAA-Receptor Related Disorders
02:25 The Role of GABAA-Receptors in Seizures
05:14 Variability in Symptoms Among Individuals with GABAA-Receptor Mutations
08:30 The Importance of Genetic Testing and Personalised Treatment
10:14 Challenges in Diagnosing and Understanding the Prevalence of GABAA-Receptor Mutations
13:55 Conclusion & thanks
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Don’t understand all the terms used? Check out the Epilepsy Sparks Glossary! 👇 www.epilepsysparks.com/glossary
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📲 Join me on social media!
X: twitter.com/torierobinson10
LinkedIn: www.linkedin.com/torierobinson
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Facebook: www.facebook.com/TorieRobinsonSpeaker
TikTok: www.tiktok.com/@torierobinson10
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