Ontology highlight
ABSTRACT:
SUBMITTER: Murdock DR
PROVIDER: S-EPMC3616765 | biostudies-literature | 2011 Sep
REPOSITORIES: biostudies-literature
Murdock David R DR Clark Gary D GD Bainbridge Matthew N MN Newsham Irene I Wu Yuan-Qing YQ Muzny Donna M DM Cheung Sau Wai SW Gibbs Richard A RA Ramocki Melissa B MB
American journal of medical genetics. Part A 20110810 9
Polymicrogyria is a disorder of neuronal development resulting in structurally abnormal cerebral hemispheres characterized by over-folding and abnormal lamination of the cerebral cortex. Polymicrogyria is frequently associated with severe neurologic deficits including intellectual disability, motor problems, and epilepsy. There are acquired and genetic causes of polymicrogyria, but most patients with a presumed genetic etiology lack a specific diagnosis. Here we report using whole-exome sequenci ...[more]