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Molecular Genetics in Infantile Spasms

NCT02885389 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 41

Last updated 2016-08-31

No results posted yet for this study

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

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Eligibility

Min Age
3 Months
Max Age
15 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-10-31
Primary Completion
2012-07-31
Completion
2012-07-31

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02885389 on ClinicalTrials.gov