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Malformations of cortical development.


ABSTRACT: 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. Ann Neurol 2016;80:797-810.

SUBMITTER: Desikan RS 

PROVIDER: S-EPMC5177533 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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Malformations of cortical development.

Desikan Rahul S RS   Barkovich A James AJ  

Annals of neurology 20161111 6


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 c  ...[more]

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