Molecular Genetics in Infantile Spasms

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

41 participants

Study Classification

OBSERVATIONAL

Study Start Date

2010-10-31

Study Completion Date

2012-07-31

Brief Summary

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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

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Conditions

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Infantile Spasms West Syndrome

Keywords

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Infantile spasms West syndrome variant mutation CNV sequencing

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* Infantile spams or West syndrome

Exclusion Criteria

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

Minimum Eligible Age

3 Months

Maximum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

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Responsibility Role SPONSOR

Other Identifiers

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2010.614

Identifier Type: -

Identifier Source: org_study_id