Malformations of Cortical Development and Epilepsy

被引：106

作者：

Barkovich, A. James ^{[1
]}

Dobyns, William B. ^{[2
]}

Guerrini, Renzo ^{[3
]}

机构：

[1] Univ Calif San Francisco, Dept Radiol & Biomed Imaging Neurol Pediat & Neur, San Francisco, CA 94143 USA

[2] Seattle Childrens Res Inst, Ctr Integrat Brain Res, Seattle, WA 98101 USA

[3] Univ Florence, Childrens Hosp Meyer, Pediat Neurol Unit & Labs, I-50139 Florence, Italy

来源：

COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2015年 / 5卷 / 05期

关键词：

PERIVENTRICULAR NODULAR HETEROTOPIA; WALKER-WARBURG-SYNDROME; CONGENITAL MUSCULAR-DYSTROPHY; RECESSIVE CEREBELLAR HYPOPLASIA; BILATERAL PERISYLVIAN SYNDROME; BASEMENT-MEMBRANE INTEGRITY; NEURONAL MIGRATION; ABNORMAL GENITALIA; BRAIN MALFORMATION; GENE CAUSES;

D O I：

10.1101/cshperspect.a022392

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

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.

引用

页数：23

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