Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age3-25
SponsorFondation Ophtalmologique Adolphe de Rothschild
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 samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.
Eligibility criteria
Qualifiers
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
Disqualifiers
refusal to participate in the study
contraindication to anaesthesia, to MRI or to surgery
no medical insurance coverage
Trial design
Treatments tested in this trial
- Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
Treatment groups
450 Participants
are divided into 1 treatment groupSponsors and collaborators
Source ClinicalTrials.gov