The genetic basis of human cerebral cortical malformations

Abstract

Malformations of cortical development occur when the normal process of brain development is disrupted. With the widespread use of high-resolution neuroimaging, brain malformations are increasingly being recognized as a relatively common cause orefractory epilepsy, mental retardation, and other neurological disorders. The molecular and genetic bases of many cortical malformations have been elucidated in recent years, both expanding our understanding of the underlying biological processes in brain development and informing our approach to these disorders in clinical practice. This chapter highlights some of these malformations, including disorders of microcephaly, gray matter hetero-topia, lissencephaly syndromes, and polymicrogyria. © 2006 Humana Press Inc.