Molecular Genetics in Infantile Spasms

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Brief Title

Molecular Genetics in Infantile Spasms

Official Title

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

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.
    



Study Type

Observational


Primary Outcome

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


Condition

Infantile Spasms



Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

41

Start Date

October 2010

Completion Date

July 2012

Primary Completion Date

July 2012

Eligibility Criteria

        Inclusion Criteria:

          -  Infantile spams or West syndrome

        Exclusion Criteria:

          -  brain malformation

          -  clinical features of tuberous sclerosis

          -  abnormal metabolic assays
      

Gender

All

Ages

3 Months - 15 Years

Accepts Healthy Volunteers

No

Contacts

, , 



Administrative Informations


NCT ID

NCT02885389

Organization ID

2010.614


Responsible Party

Sponsor

Study Sponsor

Hospices Civils de Lyon


Study Sponsor

, , 


Verification Date

August 2016