Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Title: Genetics of Human Developmental Brain Disorders      
Identifier:
phs000492.v1.p1
description:
Developmental brain malformations are at the core of significant neurological diseases affecting many families in the United States and around the world. It is known that epilepsy, specific learning deficits and intellectual disability, cerebral palsy, and abnormalities of brain volume can be attributed in many cases to pathological malformations of the cerebral cortex. Although these consequences, such as epilepsy and intellectual disability, might appear broadly in the population as due to complex traits, this study's focus on those associated with cortical malformations highlights individual developmental pathways likely represented by innumerable and rare Mendelian alleles. Research has thus far uncovered dozens of genes responsible for these conditions and dissected the mechanisms underlying early cortical development in animals. However, this progress represents only the dawn of understanding the complex genetic network and neuronal architecture of the uniquely human cerebral cortex. The overall goal of this study is to define the genetic bases of human cerebral cortical development. This is accomplished through (1) the ascertainment of families with disorders of human brain development and malformation, (2) categorizing these using medical, physical and neuroimaging data, and (3) mapping and identifying the gene causing the disorder of cortical development, which can then be investigated for its normal expression and function, and role in human disease.
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000492.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Microcephaly
Malformations of Cortical Development
Perisylvian Syndrome
Pachygyria, frontotemporal
Bilateral periventricular nodular heterotopia
Cobblestone lissencephaly
Cerebellar Ataxia
Agenesis of corpus callosum
Myoclonic Epilepsies, Progressive
Intellectual disability
Nervous System Malformation
Thakker-Donnai syndrome
affiliations:
Children's Hospital Boston, Boston, MA, USA
name:
Christopher A. Walsh, MD, PhD
roles:
Principal Investigator
affiliations:
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
name:
U54 HG003067
roles:
Funding Source
performedBy:
TitleNameInstitute Principal InvestigatorChristopher A. Walsh, MD, PhDChildren's Hospital Boston, Boston, MA, USA Funding SourceU54 HG003067National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000492.v1.p1
Identifier:
phs000492.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
Human Epilepsy and Cognition
schedulesActivity:
Cases were enrolled prospectively for sample collection and medical record review (including brain imaging when applicable). No additional study visits or treatments apply.
alternateIdentifiers:
yes
selectionCriteria:

Inclusion Criteria: Persons having a brain malformation (i.e.: microcephaly, heterotopias, polymicrogyria, or lissencephaly), familial intellectual disability, and/or epilepsy. Unaffected family members of enrolled probands may also be included. Males and females of any age, race or ethnicity are included.

Exclusion Criteria: Persons with a probable non-genetic cause already identified for their brain malformation or intellectual disability, and those without a brain malformation or intellectual disability.

dateReleased:
04-17-2012
version:
phs000492.v1.p1
dateModified:
04-17-2012
abbreviation:
NHGRI
name:
National Human Genome Research Institute
ID:
0
name:
dbGaP