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RecruitingNCT02890641

Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies

Sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Enrollment

450 participants

Start Date

Dec 17, 2015

Study Type

OBSERVATIONAL

Conditions

Tuberous SclerosisRefractory Focal EpilepsyFocal Cortical DysplasiaHemimegalencephalyMild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE)

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

Min Age: 3 MonthsMax Age: 25 Years

Inclusion Criteria3

  • 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 Criteria3

  • refusal to participate in the study
  • contraindication to anaesthesia, to MRI or to surgery
  • no medical insurance coverage

Interventions

GENETICSampling of blood, frozen resected tissues, and cerebrospinal fluid (CSF)

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

Locations(1)

Fondation Ophtalmologique Adolphe de Rothschld

Paris, France

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NCT02890641

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