Molecular Genetics in Infantile Spasms

Civil Hospices of Lyon

Status

Completed

Conditions

Infantile Spasms

West Syndrome

Study type

Observational

Funder types

Other

Identifiers

NCT02885389

2010.614

Details and patient eligibility

About

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.

Enrollment

41 patients

Sex

All

Ages

3 months to 15 years old

Volunteers

No Healthy Volunteers

Inclusion criteria