RecruitingNCT02890641

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrollment

450 participants

Start Date

Dec 17, 2015

Study Type

OBSERVATIONAL

Conditions

Drug-resistant Focal Epilepsies in Pediatric Population

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.

Eligibility

Min Age: 3 MonthsMax Age: 25 Years

Plain Language Summary

Simplified for easier understanding

This study investigates the genetic causes and brain activity patterns in children who have epilepsy (seizures) that doesn't respond to medication, with the goal of better understanding why some epilepsy is so hard to treat. **You may be eligible if...** - Your child has epilepsy caused by a structural brain abnormality (such as focal cortical dysplasia, tuberous sclerosis, Sturge-Weber syndrome, or others) and seizures are not controlled by medication - You and the child's other parent (or legal guardian) have given written consent - Your family is covered by social security or a recognized foreign insurance plan **You may NOT be eligible if...** - Your child does not have a confirmed structural cause for their epilepsy - You are unwilling or unable to provide consent This research may help doctors find better surgical or genetic treatments for children whose seizures don't respond to medication. Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

Interested in this trial?

Get notified about updates and connect with the research team.

Interventions

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

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

Locations(1)

Fondation Ophtalmologique Adolphe de Rothschld

Paris, France

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT02890641