Ignite Creation Date:
2024-05-06 @ 9:01 AM
Last Modification Date:
2024-10-26 @ 12:08 PM
Study NCT ID:
NCT02885389
Status:
COMPLETED
Last Update Posted:
2016-08-31
First Post:
2016-08-23
Brief Title:
Molecular Genetics in Infantile Spasms
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome
Status:
COMPLETED
Status Verified Date:
2016-08
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:
None
Brief Summary:
Infantile Spasms syndrome ISs is a characterized by epileptic spasms occurring in clusters with an onset in the first year of life West syndrome represents a subset of ISs that associates spasms in clusters a hypsarrhythmia EEG pattern and a developmental arrest or regression Aetiology of ISs is widely heterogeneous including many genetic causes Many patients however remain without etiological diagnosis which is critical for prognostic purpose and genetic counselling In the present study the investigators performed genetic screening of 73 patients with different types of ISs by array-CGH and molecular analysis of 5 genes CDKL5 STXBP1 KCNQ2 and GRIN2A whose mutations cause different types of epileptic encephalopathies including ISs as well as MAGI2 which was suggested to be related to a subset of ISs
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