Article
Genomic variants and variations in malformations of cortical development.
Pediatric clinics of North America - 1 Jun 2015
Jamuar Saumya S, Walsh Christopher A
Abstract excerpt
Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes have been identified in patients with MCD. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These somatic mutations may not be detectable by...
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