Developmental genetic malformations of the cerebral cortex

Cortical malformations give rise to severe clinical manifestations such as epilepsy and mental retardation, but sometimes to more subtle problems like dyslexia. From a clinical standpoint, such structural abnormalities are diagnosed by radiographic and histologic findings, with disease classifications often based on these observations. Using this categorization, many of the responsible genes have been determined and now provide a means of understanding the molecular basis of the neurologic disorders. This review discusses the known genetic developmental syndromes in the context of the observed cortical malformations, the expression and function of the responsible genes, and their potential roles during the various stages of central nervous system development.