Just a Few Brain Cells Can Cause Epilepsy: Mosaicism - Dr. Stéphanie Baulac
About this episode
Dr. Stéphanie Baulac discusses how mosaicism and genetic mutations in brain cells can lead to focal cortical dysplasia and impact epilepsy treatment.
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…
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