NCT02885389

Molecular Genetics in Infantile Spasms

Molecular Characterization of a Cohort of 73 Patients With Infantile Spasms Syndrome

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 41 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 3 Months – 15 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Infantile Spasms
• West Syndrome

Timeline

• Start date: 2010-10-01
• Primary completion: 2012-07-01
• Completion: 2012-07-01
• First posted: 2016-08-31
• Last updated: 2016-08-31