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Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

NCT02890641 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 450

Last updated 2026-04-17

No results posted yet for this study

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

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

Sponsors & Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild

    lead NETWORK

Principal Investigators

  • Mathilde CHIPAUX, MD, PhD · Fondation A de Rothschild

  • Stéphanie BAULAC, PhD · Institut du Cerveau

Eligibility

Min Age
3 Months
Max Age
25 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-12-17
Primary Completion
2026-12-31
Completion
2031-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02890641 on ClinicalTrials.gov