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Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Recruitingn/aAges 3 Months - 25 YearsAllFondation Ophtalmologique Adolphe de Rothschild
NCT02890641 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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 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 Criteria: * refusal to participate in the study * contraindication to anaesthesia, to MRI or to surgery * no medical insurance coverage
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What it tests

  • Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)
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Where

1 site
Fondation Ophtalmologique Adolphe de Rothschld
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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