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Genetics of Human Developmental Brain Disorders

Identifiers: SRA: SRP012500
BioProject: PRJNA160055
dbGaP: phs000492
Study Type: 
Abstract: 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... (for more see dbGaP study page.)

The SRA runs contain human sequence

These data are available through the dbGaP authorized access system.

Related SRA data

87 ( 87 samples )
87 (679.6Gbp; 302.5Gb)