GDR_2015_15

GDR_2015_15

Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

2015-12-12

2030-12-01

2030-12-01

Recruiting

450

Inclusion Criteria: * 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 Exclusion Criteria: * refusal to participate in the study * contraindication to anaesthesia, to MRI or to surgery * no medical insurance coverage

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'FAMILY_BASED', 'timePerspective': 'CROSS_SECTIONAL'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'cortical tissu removed from neurosurgical intervention of epilespy'}, 'enrollmentInfo': {'count': 450, 'type': 'ESTIMATED'}}

2023-12-13