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Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
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.
Key Details
Gender
All
Age Range
3 Months - 25 Years
Study Type
OBSERVATIONAL
Enrollment
450
Start Date
2015-12-17
Completion Date
2031-12
Last Updated
2026-04-17
Healthy Volunteers
No
Interventions
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
Locations (1)
Fondation Ophtalmologique Adolphe de Rothschld
Paris, France