Brain Malformation, Cognition Disorder, Epilepsy, Neuronal Migration Disorder
Conditions
Keywords
epilepsy, seizures, disorders of human cognition, neuronal migration, neuronal migration disorders, lissencephaly, schizencephaly, polymicrogyria, heterotopia, microcephaly, pachygyria
Brief summary
The purpose of this study is to identify genes responsible for epilepsy, brain malformations and disorders of human cognition.
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 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.
Interventions
None listed
Sponsors
National Institute of Neurological Disorders and Stroke (NINDS)
Howard Hughes Medical Institute
Harvard University Faculty of Medicine
Study design
Observational model
FAMILY_BASED
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification and characterization of genes important in normal brain development and associated with brain malformations. | Ongoing | Genetic variants associated with disorder of brain development |
Countries
United States
Contacts
Primary ContactJennifer Neil, MS
Backup ContactAbbe Lai, MS
Outcome results
None listed