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Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
Summary
Brain somatic mutations affecting genes of the mTOR signaling pathway are a well-established cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly. Somatic mutations in SLC35A2 have been identified in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), while activating somatic mutations in the SHH pathway are associated with hypothalamic hamartomas. This study aims to identify brain-restricted somatic mutations through the analysis of paired blood-brain samples and to assess their functional impact 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
2026-04-01
Healthy Volunteers
No
Interventions
Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
Sampling of blood, frozen resected tissue, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples SEEG electrodes
Locations (1)
Fondation Ophtalmologique Adolphe de Rothschld
Paris, France