Stéphanie Baulac
@sbaulac.bsky.social
Brain Mosaicism-Cortical Malformations-Epilepsy
Group leader @Institut du Cerveau/Paris Brain Institute
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
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...
www.nature.com/articles/s41...
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia - Nature Neuroscience
In this work, the authors performed a single-cell genotyping and transcriptomics analysis, revealing cell-type-specific and nonautonomous effects of mTOR pathway mutations in mosaic focal cortical dys...
www.nature.com
May 15, 2025 at 1:55 PM
📢 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