Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies (GENEPHY)

Fondation Ophtalmologique Adolphe de Rothschild

Status: Enrolling

Conditions: Refractory Focal Epilepsy; Hemimegalencephaly; Focal Cortical Dysplasia; Tuberous Sclerosis; Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)

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

Study type: Observational

Funder types: NETWORK

Identifiers

NCT02890641

GDR_2015_15

Details and patient eligibility

About

Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly, while SLC35A2 mutations are identified in MOGHE.

This study aims to identify brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

Enrollment: 450 estimated patients

Sex: All

Ages: 3 months to 25 years old

Volunteers: No Healthy Volunteers

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

Trial design

450 participants in 1 patient group

Children undergoing epilepsy surgery at the Rothschild Foundation, Paris.

Description:

Sequencing of paired blood-brain DNA samples

Treatment:

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