Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Summary

Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly, while SLC35A2 mutations are identified in MOGHE. This study aims to identify brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy

Eligibility

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

Conditions7

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