Human Epilepsy Genetics--Neuronal Migration Disorders Study

Sponsor

Harvard University Faculty of Medicine (Other)

Overall Status

Recruiting

CT.gov ID

NCT00041600

Collaborator

National Institute of Neurological Disorders and Stroke (NINDS) (NIH), Howard Hughes Medical Institute (Other)

3,500

Enrollment

Location

410

Duration (Months)

8.5

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition.

Condition or Disease	Intervention/Treatment	Phase
Epilepsy Seizures Cognition Disorders Neuronal Migration Disorders

Detailed Description

Epilepsy is responsible for tremendous long-term healthcare costs. Analysis of inherited epilepsy conditions has allowed for identification of several key genes active in the developing brain. Although many genetic abnormalities of the brain are rare and lethal, rapidly advancing knowledge of the structure of the human genome makes it a realistic goal to identify genes responsible for several other epileptic conditions.

The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition (EDHC). The Walsh Laboratory at the Children's Hospital Boston and Beth Israel Deaconess Medical Center is looking for genes involved in brain development. Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly, Walker-Warburg syndrome, heterotopias, and cerebellar hypoplasia, and inherited disorders of cognition, such as familial mental retardation and familial autism; people with these conditions also often have epilepsy. The structural brain abnormalities are usually diagnosed by brain MRI or sometimes CT scans. Adults and children with these conditions, and their family members, are invited to participate in our study. By comparing the DNA of individuals or families that carry EDHC to the DNA of people in the general population, it may be possible to learn more about the genetic bases of certain forms of EDHC.

Study participants must have a brain malformation or disorder of cognition such as mental retardation or autism in addition to epilepsy in order to take part in this research.

Study Design

Study Type:

Observational

Anticipated Enrollment :

3500 participants

Observational Model:

Family-Based

Time Perspective:

Other

Official Title:

Human Epilepsy Genetics--Neuronal Migration Disorders Study

Study Start Date :

Apr 1, 1996

Anticipated Primary Completion Date :

Jun 1, 2030

Anticipated Study Completion Date :

Jun 1, 2030

Outcome Measures

Primary Outcome Measures

Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. [Ongoing]

Eligibility Criteria

Criteria

Ages Eligible for Study:

N/A and Older

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

INCLUSION:

Males and females of any age.
Persons with a brain malformation or disorder of cognition (intellectual disability [previously known as mental retardation] or autism).