Overview

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

Eligibility

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