Human Epilepsy Genetics--Neuronal Migration Disorders Study
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|ClinicalTrials.gov Identifier: NCT00041600|
Recruitment Status : Recruiting
First Posted : July 12, 2002
Last Update Posted : March 2, 2021
|Condition or disease|
|Epilepsy Seizures Cognition Disorders Neuronal Migration Disorders|
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 Type :||Observational|
|Estimated Enrollment :||3500 participants|
|Official Title:||Human Epilepsy Genetics--Neuronal Migration Disorders Study|
|Study Start Date :||April 1996|
|Estimated Primary Completion Date :||June 2025|
|Estimated Study Completion Date :||June 2025|
- Identification and characterization of genes important in normal brain development and associated with congenital brain malformations. [ Time Frame: Ongoing ]
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00041600
|Contact: Jennifer Partlow, MSfirstname.lastname@example.org|
|Contact: Abbe Lai, MS||617-919-4371|
|United States, Massachusetts|
|Boston Children's Hospital, Walsh Laboratory||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Jennifer Partlow, MS 617-919-2865 email@example.com|
|Contact: Abbe Lai, MS 617-919-4371|
|Principal Investigator: Christopher A. Walsh, M.D., Ph.D.|
|Principal Investigator:||Christopher A. Walsh, M.D., Ph.D.||Harvard Institutes of Medicine|