Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Recruiting
Observational Study
Drug-resistant Focal Epilepsies in Pediatric Population
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 3 Months – 25
- Sex
- Any
- Study type
- Observational
- Participants needed
- 450 (estimated)
- Sponsor
- Fondation Ophtalmologique Adolphe de Rothschild · Research network
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About This Trial
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 s…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* 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 en…
Contacts