Molecular Genetics in Infantile Spasms

Completed

• Conditions: Infantile Spasms; West Syndrome

• Registration Number: NCT02885389
• Lead Sponsor: Hospices Civils de Lyon

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

Not available

Study Timeline

• Study Start: 2010-10
• Primary Completion: 2012-07
• Study Completion: 2012-07
• Status Verified: 2016-08
• Study First Submitted: 2016-08-23
• Study First Submitted QC: 2016-08-26
• Last Update Submitted: 2016-08-26
• Study First Posted: 2016-08-31
• Last Update Posted: 2016-08-31

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 41

Inclusion Criteria

• Infantile spams or West syndrome

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Exclusion Criteria

• brain malformation
• clinical features of tuberous sclerosis
• abnormal metabolic assays

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Presence of deleterious gene variants in candidate genes for infantile spasms/west syndrome and for deleterious Copy-Number variations (CNV). A pan-genome analysis by microarray	Day one