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Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies — GENEPHY  

Tuberous Sclerosis Clinical Trial

Clinical Trial 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

Clinical Trial Description

n/a

Study Design

Related Conditions & MeSH terms

Clinical Trial Details
NCT number NCT02890641
Study type Observational
Source Fondation Ophtalmologique Adolphe de Rothschild
Contact Amelie YAVCHITZ, MD
Phone +33 1 48 03 64 54
Email ayavchitz@for.paris
Status Recruiting
Phase
Start date December 12, 2015
Completion date December 2030
View Details
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