Stéphanie Baulac

@sbaulac.bsky.social

Brain Mosaicism-Cortical Malformations-Epilepsy Group leader @Institut du Cerveau/Paris Brain Institute

📢 Paper out! Focal Cortical Dysplasia-linked epilepsy is more complex than expected - somatic mTOR-activating mutations affect multiple cell lineages, yet only a fraction become cytomegalic. Dysmorphic neurons show mitochondrial dysfunction. #Epilepsy #BrainMosaicism #Neurodevelopment

Nature Neuroscience@natneuro.nature.com · last yr.

Single-cell genotyping and transcriptomic analysis reveals cell-type specific and non-autonomous effects of mTOR pathway mutations in mosaic focal cortical dysplasia type II (FCDII) 🧠🧪 www.nature.com/articles/s41...