Three epilepsy-associated GABRG2 missense mutations at the γ+/β− interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents

by Xuan Huang, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald
Published 2014-08-01

The GABRG2 nonsense mutation, Q40X, associated with Dravet syndrome activated NMD and generated a truncated subunit that was partially rescued by aminoglycoside-induced stop codon...

by Xuan Huang, Mengnan Tian, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald
Published 2012-10-01

GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)

by Emily Todd, Katharine N. Gurba, Emmanuel J. Botzolakis, Aleksandar K. Stanic, Robert L. Macdonald
Published 2014-09-01

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

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Published 2016-01-01

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Published 2016-01-01

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

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

KCC2 and NKCC1 in the control of neuronal Cl- and brain excitability.

by Zhu, Lei
Published 2007

STRUCTURAL DETERMINANTS OF GABAA RECEPTOR BIOGENESIS

by Lo, Wen-yi
Published 2008

Characterization of Mutant Human Brain Sodium Channels Associated with Familial Epilepsy

by Misra, Sunita N
Published 2008