Actively Recruiting
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Led by Fondation Ophtalmologique Adolphe de Rothschild · Updated on 2026-04-17
450
Participants Needed
1
Research Sites
832 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Children with focal drug-resistant epilepsy including Focal Cortical Dysplasia, Hemimegalencephaly, Tuberous Sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic Hamartomas, Sturge-Weber syndrome, Rasmussen encephalitis, gliomas
- Parents who have signed informed consent for their child's participation and for themselves
- Social security coverage or foreign regime recognized in France
You will not qualify if you...
- Refusal to participate in the study
- Contraindication to anesthesia, MRI, or surgery
- No medical insurance coverage
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Fondation Ophtalmologique Adolphe de Rothschld
Paris, France, 75019
Actively Recruiting
Research Team
A
Amelie YAVCHITZ, MD
CONTACT
M
Mathilde CHIPAUX, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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