Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Condition(s) studied

Investigational drug(s) / intervention(s)

Sampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF): Sampling of blood, frozen resected tissue, saliva, and cerebrospinal fluid (CSF); sequencing of paired blood-brain DNA samples, SEEG electrodes

Study summary

Brain somatic mutations are increasingly recognized as a major cause of focal epilepsies. These include mTOR pathway mutations underlying cortical malformations such as focal cortical dysplasia and hemimegalencephaly, and SLC35A2 mutations in MOGHE, and activating variants in the SHH pathway in hypothalamic hamartomas.

This study aims to identify brain somatic mutations using paired blood-brain samples and trace DNA from stereo-EEG electrodes, and to perform functional validation of candidate variants in children with drug-resistant focal epilepsy.

Eligibility

Primary outcome measure(s)

• qualitative genetic analysis — baseline
  Detection of brain somatic mutations and functional studies

Trial sites (1)

More Fondation Ophtalmologique Adolphe de Rothschild trials in France