NCT02890641

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 450 (estimated)
• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild · Network
• Sex: All
• Age: 3 Months – 25 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Drug-resistant Focal Epilepsies in Pediatric Population

Interventions

Type	Name	Description
GENETIC	Sampling 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

Timeline

• Start date: 2015-12-17
• Primary completion: 2026-12-01
• Completion: 2031-12-01
• First posted: 2016-09-07
• Last updated: 2026-04-17

Locations

1 site across 1 country: France