Genetics of disorders of cortical development.
Since the advent of MR imaging, cortical malformations have become an increasingly recognized cause of epilepsy and neurologic impairment. Improved radiographic characterization of cortical malformations has been requisite to defining their genetics, and a large portion of these disorders are now known to have a genetic basis. Uncovering genetic etiologies has provided insight into phenotypic diversity, revealed the importance of de novo mutations, and resulted in improved radiographic-genetic correlation. This article provides an overview of major cerebral cortical malformations and focuses on the genetic mechanisms of their causation.
Gaitanis
John N
JN
Neurology, Brown School of Medicine, Hasbro Children's Hospital, Providence, RI 02905, USA.
Walsh
Christopher A
CA
D002540:Cerebral Cortex / Q000002:abnormalities* / Q000196:embryology*; D008040:Genetic Linkage; D006801:Humans; D009421:Nervous System Malformations / Q000175:diagnosis / Q000196:embryology* / Q000235:genetics*