The K328M substitution in the human GABAA receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice

by Shimian Qu, Chengwen Zhou, Rachel Howe, Wangzhen Shen, Xuan Huang, Mackenzie Catron, Ningning Hu, Robert L. Macdonald
Published 2021-05-01

Impaired surface αβγ GABAA receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

by Mengnan Tian, Davide Mei, Elena Freri, Ciria C. Hernandez, Tiziana Granata, Wangzhen Shen, Robert L. Macdonald, Renzo Guerrini
Published 2013-02-01

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

by Ryan J. Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L. Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang
Published 2016-12-01

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

by Jie Wang, Sarah Poliquin, Felicia Mermer, Jaclyn Eissman, Eric Delpire, Juexin Wang, Wangzhen Shen, Kefu Cai, Bing-Mei Li, Zong-Yan Li, Dong Xu, Gerald Nwosu, Carson Flamm, Wei-Ping Liao, Yi-Wu Shi, Jing-Qiong Kang
Published 2020-05-01

A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes

by Ann J. Johnston, Jing-Qiong Kang, Wangzhen Shen, William O. Pickrell, Thomas D. Cushion, Jeffrey S. Davies, Kristin Baer, Jonathan G.L. Mullins, Carrie L. Hammond, Seo-Kyung Chung, Rhys H. Thomas, Cathy White, Phil E.M. Smith, Robert L. Macdonald, Mark I. Rees
Published 2014-04-01