The following info and data is provided "as is" to help patients around the globe.
We do not endorse or review these studies in any way.
Brief Title: Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Official Title:
Study ID: NCT02890641
Brief Summary: Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia or hemimegalencephaly. The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy
Detailed Description:
Minimum Age: 3 Months
Eligible Ages: CHILD, ADULT
Sex: ALL
Healthy Volunteers: No
Fondation Ophtalmologique Adolphe de Rothschld, Paris, , France
Name: Mathilde CHIPAUX, MD
Affiliation: Fondation A de Rothschild
Role: PRINCIPAL_INVESTIGATOR
Name: Stephanie Boulac, PhD
Affiliation: Institut du Cerveau et de la Moelle Epinière
Role: STUDY_CHAIR