A developmental and genetic classification for malformations of cortical development: update 2012

被引：694

作者：

Barkovich, A. James ^{[1
,2
,3
,4
,5
]}

Guerrini, Renzo ^{[6
,7
]}

Kuzniecky, Ruben I. ^{[8
,9
]}

Jackson, Graeme D. ^{[10
,11
]}

Dobyns, William B. ^{[12
,13
,14
]}

机构：

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

[2] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

[3] Univ Calif San Francisco, Dept Paediat, San Francisco, CA 94143 USA

[4] Univ Calif San Francisco, Dept Neurosurg, San Francisco, CA 94143 USA

[5] Univ Calif San Francisco, Benioff Childrens Hosp, San Francisco, CA 94143 USA

[6] Univ Florence, A Meyer Childrens Hosp, Child Neurol Unit, I-50100 Florence, Italy

[7] IRCCS Stella Maris, I-56108 Pisa, Italy

[8] NYU, Dept Neurol, New York, NY 10016 USA

[9] NYU, NYU Comprehens Epilepsy Ctr, New York, NY 10016 USA

[10] Austin Hosp, Florey Neurosci Inst, Heidelberg, Vic 3084, Australia

[11] Univ Melbourne, Melbourne Brain Ctr, Dept Med, Heidelberg, Vic 3084, Australia

[12] Univ Washington, Dept Paediat, Seattle, WA 98195 USA

[13] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

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

来源：

BRAIN | 2012年 / 135卷

基金：

美国国家卫生研究院;

关键词：

cerebral cortex; malformation of cortical development; microcephaly; cortical dysplasia; polymicrogyria; PERIVENTRICULAR NODULAR HETEROTOPIA; WALKER-WARBURG-SYNDROME; LINKED MENTAL-RETARDATION; CAJAL-RETZIUS CELLS; EYE-BRAIN DISEASE; BILATERAL FRONTOPARIETAL POLYMICROGYRIA; CONGENITAL MUSCULAR-DYSTROPHY; INTERMEDIATE PROGENITOR-CELL; NEURONAL MIGRATION DISORDER; ORIGIN RECOGNITION COMPLEX;

D O I：

10.1093/brain/aws019

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development.

引用

页码：1348 / 1369

页数：22

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