Infantile Spasms, West Syndrome
Conditions
Keywords
Infantile spasms, West syndrome, variant, mutation, CNV, sequencing
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.
Interventions
None listed
Sponsors
Hospices Civils de Lyon
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Months to 15 Years
Healthy volunteers
No
Inclusion criteria
* Infantile spams or West syndrome
Exclusion criteria
* brain malformation * clinical features of tuberous sclerosis * abnormal metabolic assays
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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 |
Outcome results
None listed