De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy-Reference-Cited by-同舟云学术

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

Published:2014-04 Issue:4 Volume:94 Page:634-641
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Cushion Thomas D.,Paciorkowski Alex R.,Pilz Daniela T.,Mullins Jonathan G.L.,Seltzer Laurie E.,Marion Robert W.,Tuttle Emily,Ghoneim Dalia,Christian Susan L.,Chung Seo-Kyung,Rees Mark I.,Dobyns William B.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. A developmental and genetic classification for malformations of cortical development: update 2012;Barkovich;Brain,2012

2. A developmental and genetic classification for malformations of cortical development;Barkovich;Neurology,2005

3. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A;Cushion;Brain,2013

4. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans;Keays;Cell,2007

5. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria;Jaglin;Nat. Genet.,2009

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