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Study 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.

  • Study Types: Probands, Mendelian, Family
  • Number of study subjects that have individual level data available through Authorized Access: 58

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

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.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Exome Sequencing Agilent SureSelect Human All Exon v.2 Kit N/A N/A
Study History

Cases were enrolled prospectively for sample collection and medical record review (including brain imaging when applicable). No additional study visits or treatments apply.

Selected publications
Diseases Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Christopher A. Walsh, MD, PhD. Children's Hospital Boston, Boston, MA, USA
  • Funding Source
    • U54 HG003067. National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA