RECRUITINGOBSERVATIONAL

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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 willing to sign a consent form 1) for their child's participation (for parents) and 2) for themselves - Social security coverage or foreign regime recognized in France Who Should NOT Join This Trial: - refusal to participate in the study - contraindication to anaesthesia, to MRI or to surgery - no medical insurance coverage Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

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

Treatments Being Tested

GENETIC

Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

Sampling of blood, frozen resected tissue, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples SEEG electrodes

Locations (1)

Fondation Ophtalmologique Adolphe de Rothschld

Paris, France