Malformations of Cortical Development

被引：95

作者：

Desikan, Rahul S. ^{[1
]}

Barkovich, A. James ^{[1
]}

机构：

[1] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, Neuroradiol Sect, 505 Parnassus Ave, San Francisco, CA 94143 USA

来源：

ANNALS OF NEUROLOGY | 2016年 / 80卷 / 06期

关键词：

PATHWAY MUTATIONS CAUSE; DOUBLE CORTEX SYNDROME; GABAERGIC INTERNEURONS; GENETIC CLASSIFICATION; NEURONAL DEVELOPMENT; NODULAR HETEROTOPIA; BRAIN MALFORMATIONS; ABNORMAL GENITALIA; MAMMALIAN TARGET; CORPUS-CALLOSUM;

D O I：

10.1002/ana.24793

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Malformations of cortical development (MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs.

引用

页码：797 / 810

页数：14

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