Ignite Creation Date:
2024-05-06 @ 9:04 AM
Last Modification Date:
2024-10-26 @ 12:09 PM
Study NCT ID:
NCT02890641
Status:
RECRUITING
Last Update Posted:
2023-12-13
First Post:
2016-08-29
Brief Title:
Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies
Sponsor:
Fondation Ophtalmologique Adolphe de Rothschild
Organization:
Fondation Ophtalmologique Adolphe de Rothschild
Study Overview
Official Title:
None
Status:
RECRUITING
Status Verified Date:
2023-12
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
GENEPHY
Brief Summary:
Brain somatic mutations in genes belonging to the mTOR signaling pathway are a frequent cause of cortical malformations including focal cortical dysplasia or hemimegalencephaly
The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy
The present study aims to search for brain somatic mutations in paired blood-brain samples and perform functional validation in children with drug-resistant focal epilepsy
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None