Genetic study of brain mutations in children with hard-to-treat focal epilepsy
Looks for brain gene changes using blood, brain tissue and fluid samples in children.
Plain-language title generated from the registry record
Registry title: Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Key facts
- Where
- Paris, FranceSee the site
Where in France
- Fondation Ophtalmologique Adolphe de RothschldParis, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Fondation Ophtalmologique Adolphe de Rothschild
- Trial code
- NCT02890641
- Record updated
- 17 April 2026
- Original description
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.Read full original descriptionShow less
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.
Inclusion: 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; Their parents who have signed informed consent 1) for their child's participation (for parents) and 2) for themselves; Social security coverage or foreign regime recognized in France.
Exclusion: contraindication to anaesthesia, to MRI or to surgery; refusal to participate in the study; no medical insurance coverage.