Clinical Trial: Human Epilepsy Genetics--Neuronal Migration Disorders Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Human Epilepsy Genetics--Neuronal Migration Disorders Study

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

Detailed Summary:

Pediatric 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.

Sponsor: Harvard University Faculty of Medicine

Current Primary Outcome: Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. [ Time Frame: Ongoing ]

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Information By: Harvard University Faculty of Medicine

Dates:
Date Received: July 11, 2002
Date Started: April 1996
Date Completion: February 2019
Last Updated: June 27, 2014
Last Verified: June 2014