Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Fondation Ophtalmologique Adolphe de Rothschild450 enrolled

Overview

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

Study Type

OBSERVATIONAL

Enrollment

450

Conditions

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

Interventions

Eligibility

Sex: ALLMin age: 3 MonthsMax age: 25 Years

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

qualitative genetic analysis

Detection of brain somatic mutations and functional studies

Time frame: baseline

Central Contacts

Amelie YAVCHITZ, MD

CONTACT

+33 1 48 03 64 54 ayavchitz@for.paris

Mathilde Chipaux, MD

CONTACT

01 48 03 69 43 mchipaux@for.paris

Data from ClinicalTrials.gov

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