Malformations of cortical development and epilepsy.
Malformations of cortical development (MCDs) are an important cause of epilepsy and an extremely interesting group of disorders from the perspective of brain development and its perturbations. Many new MCDs have been described in recent years as a result of improvements in imaging, genetic testing, and understanding of the effects of mutations on the ability of their protein products to correctly function within the molecular pathways by which the brain functions. In this review, most of the major MCDs are reviewed from a clinical, embryological, and genetic perspective. The most recent literature regarding clinical diagnosis, mechanisms of development, and future paths of research are discussed.
Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628.
A James
AJ
Barkovich
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington 98101.
William B
WB
Dobyns
Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer, University of Florence, Florence 50139, Italy.
Renzo
R
Guerrini
D001921:Brain / Q000503:physiopathology*; D003952:Diagnostic Imaging; D004827:Epilepsy / Q000209:etiology*; D006801:Humans; D054220:Malformations of Cortical Development / Q000145:classification* / Q000175:diagnosis*