Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation-Reference-Cited by-同舟云学术

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

Published:2016-12 Issue:12 Volume:17 Page:3115-3124
ISSN:2211-1247
Container-title:Cell Reports
language:en
Short-container-title:Cell Reports

Author:

Delahanty Ryan J.,Zhang Yanfeng,Bichell Terry Jo,Shen Wangzhen,Verdier Kelienne,Macdonald Robert L.,Xu Lili,Boyd Kelli,Williams Janice,Kang Jing-Qiong

Funder

Citizen United for Research in Epilepsy

Dravet Syndrome Foundation

Dravet Organization

Vanderbilt Clinical and Translation Science Award

NIH NINDS

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology

Reference29 articles.

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3. GABA and epileptogenesis: comparing gabrb3 gene-deficient mice with Angelman syndrome in man;DeLorey;Epilepsy Res.,1999

4. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome;DeLorey;J. Neurosci.,1998

5. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression;Eiberg;Hum. Genet.,2008

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