Condition: Drug-resistant Focal Epilepsies in Pediatric Population · Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
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.
This description comes directly from the study's public registry record.
Amelie YAVCHITZ, MD · +33 1 48 03 64 54 · ayavchitz@for.paris
Mathilde CHIPAUX, MD, PhD · +33 1 48 03 69 43 · mchipaux@for.paris
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| Fondation Ophtalmologique Adolphe de Rothschld | Paris, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT02890641