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Malformations of Cortical Development and Epilepsy
Author(s) -
A. James Barkovich,
William B. Dobyns,
Renzo Guerrini
Publication year - 2015
Publication title -
cold spring harbor perspectives in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.853
H-Index - 105
eISSN - 2472-5412
pISSN - 2157-1422
DOI - 10.1101/cshperspect.a022392
Subject(s) - epilepsy , neuroscience , brain development , perspective (graphical) , brain function , function (biology) , medicine , biology , computer science , evolutionary biology , artificial intelligence
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.

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