Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Brain somatic mutations affecting genes of the mTOR signaling pathway are a well-established cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly. Somatic mutations in SLC35A2 have been identified in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), while activating somatic mutations in the SHH pathway are associated with hypothalamic hamartomas. This study aims to identify brain-restricted somatic mutations through the analysis of paired blood-brain samples and to assess their functional impact in children with drug-resistant focal epilepsy.
• Children with focal drug-resistant epilepsy including Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic Hamartomas, Sturge-Weber syndrome, Rasmussen encephalitis, gliomas
• Their parents who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves
• Social security coverage or foreign regime recognized in France