Human Epilepsy Genetics--Neuronal Migration Disorders Study

Study Overview
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Brief Summary
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The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.

Detailed Description
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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 other epileptic conditions, related brain malformations and disorders of cognition. The purpose of this study is to identify genes responsible for epilepsy and disorders of human cognition (EDHC). The Walsh Laboratory at Boston Children's Hospital is looking for genes involved in brain development. Conditions that we study include brain malformations, such as polymicrogyria, lissencephaly, pachygyria, heterotopias, microcephaly and cerebellar hypoplasia, and inherited disorders of cognition, such as familial intellectual disability 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 familial intellectual disability or autism, in order to take part in this research.

Official Title
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Human Epilepsy Genetics--Neuronal Migration Disorders Study

Conditions
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Brain Malformation, Neuronal Migration Disorder, Cognition Disorder, Epilepsy

Participation Criteria
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Eligibility Criteria
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INCLUSION: Males and females of any age. Persons with a brain malformation or disorder of cognition (familial intellectual disability [previously known as mental retardation] or autism). EXCLUSION: Persons without a brain malformation or disorder of cognition (familial intellectual disability (previously known as mental retardation] or autism).
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification and characterization of genes important in normal brain development and associated with brain malformations. | Genetic variants associated with disorder of brain development | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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epilepsy, seizures, disorders of human cognition, neuronal migration, neuronal migration disorders, lissencephaly, schizencephaly, polymicrogyria, heterotopia, microcephaly, pachygyria