Abstract 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. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.
Malformations of cortical development and epilepsy / Barkovich, A. James; Dobyns, William B.; Guerrini, Renzo. - In: COLD SPRING HARBOR PERSPECTIVES IN MEDICINE. - ISSN 2157-1422. - STAMPA. - 5:(2015), pp. a022392-a022392. [10.1101/cshperspect.a022392]
Malformations of cortical development and epilepsy
GUERRINI, RENZO
2015
Abstract
Abstract 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. Copyright © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.
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