Seizure Disorders Clinical Trials

A Amelie ya

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

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