Just a Few Brain Cells Can Cause Epilepsy: Mosaicism - Dr. Stéphanie Baulac

Most people think every cell in their body contains exactly the same DNA. It turns out that's not always true. Epilepsy genetics researcher Dr. Stéphanie Baulac explains mosaicism, how tiny genetic mutations can exist in just a small number of brain cells, and why they can cause a type of epilepsy called focal cortical dysplasia (FCD). These discoveries are transforming our understanding of epilepsy and could pave the way for highly targeted treatments in the future.

Chapters 📖
00:00 Trailer & intro
00:55 Meet Dr. Stéphanie Baulac
01:12 What is focal cortical dysplasia?
02:33 Are these genetic mutations inherited?
04:17 How can so few cells cause seizures?
07:12 What is mosaicism?
09:26 What does this mean for families?
10:03 What is precision medicine?
10:04 Can treatments target only the affected brain cells?
12:49 Why were these mutations only discovered recently?
14:23 How are these mutations detected?
15:09 Closing thoughts & thanks

🔗 Episode page and transcript epilepsysparks.com/epilepsy-sparks-insights/fcd-mosaicism-somatic

🌐 More about Stéphanie epilepsysparks.com/guests/stephanie-baulac

🌐 More Epilepsy Sparks Insights epilepsysparks.com/epilepsy-sparks-insights

🎥 Watch on YouTube youtube.com/@EpilepsySparksInsights

🔤 Don’t understand terms used? Check out the Epilepsy Sparks Glossary epilepsysparks.com/glossary

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