A mosaic mTOR cortical organoid model for focal cortical dysplasia type II (FCDII)
Ann-Sofie De Meulemeester, Eline Quirijnen, Kenza Guerdoud, Stephanie Bigou, Julian Roussel, Stéphanie Baulac · FENS Forum 2024
Cortical malformations, including Focal Cortical Dysplasia type II (FCDII), are common causes of pediatric epilepsy. FCDII is characterized by abnormal cortical lamination and cytomegalic cells. Recently, deep sequencing of surgically resected brain tissue has revealed somatic mutations in mTOR pathway genes in up to 60% of FCDII-cases. Since available human FCDII samples reflect an advanced disease stage, the developmental origins and mechanisms, including the cell types affected by pathogenic mutations and their impact on cell-type-specific transcriptional programs, remain unknown. We aim t
ePoster · Neuroscience