Familial Focal Epilepsy with Focal Cortical Dysplasia Due to DEPDC5 Mutations

摘要

ObjectiveThe DEPDC5 (DEP domain-containing protein 5) gene, encoding a repressor of the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies. We aimed to further extend the role of DEPDC5 to focal cortical dysplasias (FCDs).