RecruitingNot Applicable

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

France450 participantsStarted 2015-12-17

Plain-language summary

Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas. This study aims to identify brain somatic mutations using paired blood-brain samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.

Who can participate

Age range3 Months – 25 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

qualitative genetic analysis

Timeframe: baseline

Trial details

NCT IDNCT02890641

SponsorFondation Ophtalmologique Adolphe de Rothschild

Sponsor typeNETWORK

Study typeOBSERVATIONAL

Primary completion2026-12

Contact for this trial

Amelie YAVCHITZ, MD

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

View on ClinicalTrials.gov More Drug-resistant Focal Epilepsies in Pediatric Population trials