Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Launched by FONDATION OPHTALMOLOGIQUE ADOLPHE DE ROTHSCHILD · Aug 31, 2016

Keywords

ClinConnect Summary

This clinical trial is looking into the genetic causes of certain types of epilepsy that do not respond to standard treatments. Specifically, the study focuses on children who have conditions like Focal Cortical Dysplasia, Hemimegalencephaly, and Tuberous Sclerosis, which can lead to brain malformations and seizures. Researchers want to find mutations in brain cells by comparing them to blood samples to better understand what might be causing these challenging cases of epilepsy.

To be considered for this trial, participants must be children with drug-resistant focal epilepsy and have a parent who is willing to give consent for their child to take part. Participants will undergo some tests and procedures, including MRI scans and possibly surgery, to gather important information. It’s crucial that participants have medical coverage, as those without insurance or with certain health issues may not be eligible. This study aims to improve our understanding of epilepsy and potentially lead to better treatments for affected children.

Gender

ALL

Eligibility criteria

• 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