Malformations of cortical development.

Malformations of cortical development.
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DOI:
10.1002/ana.24793
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发表时间:
2016-12
影响因子:
11.2
通讯作者:
Barkovich, A. James
Barkovich, A. James
中科院分区:
医学1区
文献类型:
--
作者:
Desikan, Rahul S.;Barkovich, A. James

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皮质发育畸形(MCDs)是神经发育迟缓和癫痫的常见原因。随着成像和遗传学方法的改进,最近已经阐明了几种MCD的潜在分子和病理生物学特征。在这篇综述中,我们讨论了破坏正常皮质发育的遗传和分子改变,重点是最近的发现,并提供了最常见和最重要的MCDs的详细放射学特征。
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.
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