TY - JOUR
T1 - Malformations of cortical development and epilepsy
AU - Barkovich, A. James
AU - Dobyns, William B.
AU - Guerrini, Renzo
N1 - Publisher Copyright:
© 2015 Cold Spring Harbor Laboratory Press; all rights reserved.
PY - 2015/5/1
Y1 - 2015/5/1
N2 - 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 improve- ments 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.
AB - 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 improve- ments 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.
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U2 - 10.1101/cshperspect.a022392
DO - 10.1101/cshperspect.a022392
M3 - Article
C2 - 25934463
AN - SCOPUS:84930505046
SN - 2157-1422
VL - 5
JO - Cold Spring Harbor Perspectives in Medicine
JF - Cold Spring Harbor Perspectives in Medicine
IS - 5
M1 - a022392
ER -