Drug-resistant Focal Epilepsies in Pediatric Population
Conditions
Keywords
Focal Cortical Dysplasia, Cortical Malformation, Hemimegalencephaly, Tuberous sclerosis, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), Hypothalamic hamartomas, Refractory Focal Epilepsy, Rasmussen Encephalitis, Epilepsy Surgery, Struge-Weber Syndrome
Brief 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.
Interventions
GENETICSampling 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
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
3 Months to 25 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| qualitative genetic analysis | baseline | Detection of brain somatic mutations and functional studies |
Countries
France
Contacts
CONTACTAmelie YAVCHITZ, MD
CONTACTMathilde CHIPAUX, MD, PhD
PRINCIPAL_INVESTIGATORMathilde CHIPAUX, MD, PhD
Fondation A de Rothschild
STUDY_CHAIRStéphanie BAULAC, PhD
Institut du Cerveau
Outcome results
None listed