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Select item 108677931.

Differential inflammation responses determine the variable phenotypes of epilepsy induced by GABRG2 mutations

Jiahui Sui, Longwu Zhan, Shengtao Ji, Wenwen Wu, Yuhan Chen, Feng Yun, Wenpeng Liang, Jie Wang, Maohong Cao, Dingding Shen, Qi Zhang

CNS Neurosci Ther. 2024 Feb; 30(2): e14583. Published online 2024 Feb 15. doi: 10.1111/cns.14583

PMCID:: PMC10867793

Abstract Article PDF–5.4M

Select item 100460372.

GABRG2 Variants Associated with Febrile Seizures

Ciria C. Hernandez, Yanwen Shen, Ningning Hu, Wangzhen Shen, Vinodh Narayanan, Keri Ramsey, Wen He, Liping Zou, Robert L. Macdonald

Biomolecules. 2023 Mar; 13(3): 414. Published online 2023 Feb 22. doi: 10.3390/biom13030414

PMCID:: PMC10046037

Abstract Article PDF–4.4M

Select item 96815593.

GABRG2 C588T Polymorphism Is Associated with Idiopathic Generalized Epilepsy but Not with Antiepileptic Drug Resistance in Pakistani Cohort

Tayyaba Saleem, Hafsa Maqbool, Nadeem Sheikh, Asima Tayyeb, Maryam Mukhtar, Aqsa Ashfaq

Biomed Res Int. 2022; 2022: 3460792. Published online 2022 Nov 15. doi: 10.1155/2022/3460792

PMCID:: PMC9681559

Abstract Article PDF–317K

Select item 85048314.

Analysis of GABRG2 C588T polymorphism in genetic epilepsy and evaluation of GABRG2 in drug treatment

Shitao Wang, Xianjun Zhang, Liang Zhou, Qian Wu, Yanbing Han

Clin Transl Sci. 2021 Sep; 14(5): 1725–1733. Published online 2021 May 1. doi: 10.1111/cts.12997

PMCID:: PMC8504831

Abstract Article PDF–693K

Select item 67299535.

The GABA_A Receptor γ2 Subunit R43Q Mutation Linked to Childhood Absence Epilepsy and Febrile Seizures Causes Retention of α1β2γ2S Receptors in the Endoplasmic Reticulum

Jingqiong Kang, Robert L. Macdonald

J Neurosci. 2004 Oct 6; 24(40): 8672–8677. doi: 10.1523/JNEUROSCI.2717-04.2004

Correction in:: J Neurosci. 2004 Oct 13; 24(41): 0.

PMCID:: PMC6729953

Abstract Article PDF–331K

Select item 61697846.

Expanding the phenotypic spectrum of GABRG2 variants: A recurrent GABRG2 missense variant associated with a severe phenotype

Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D. Picker, Sharyn Lincoln, David A. Sweetser, Lauren C. Briere, Harini Chellamani, Members of the Undiagnosed Diseases Network, Eric Marsh, Livija Medne, Raymond Y Wang, Karen Leydiker, Andrew Mower, Gepke Visser, Inge Cuppen, Koen L van Gassen, Jasper van der Smagt, Adeel Yousaf, Michael Tennison, Anita Shanmugham, Elizabeth Butler, Gabriele Richard, Dianalee McKnight

J Neurogenet. Author manuscript; available in PMC 2018 Oct 3.

Published in final edited form as: J Neurogenet. 2017 Mar-Jun; 31(1-2): 30–36. Published online 2017 May 2. doi: 10.1080/01677063.2017.1315417

PMCID:: PMC6169784

Abstract Article PDF–774K

Select item 55540987.

OVEREXPRESSING WILD-TYPE γ2 SUBUNITS RESCUED THE SEIZURE PHENOTYPE IN GABRG2^+/Q390X DRAVET SYNDROME MICE

Xuan Huang, Chengwen Zhou, Mengnan Tian, Jing-Qiong Kang, Wangzhen Shen, Kelienne Verdier, Aurea Pimenta, Robert L Macdonald

Epilepsia. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Epilepsia. 2017 Aug; 58(8): 1451–1461. Published online 2017 Jun 6. doi: 10.1111/epi.13810

PMCID:: PMC5554098

Abstract Article PDF–1.6M

Select item 54263598.

GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome

Jing-Qiong Kang, Robert L. Macdonald

JAMA Neurol. Author manuscript; available in PMC 2017 May 11.

Published in final edited form as: JAMA Neurol. 2016 Aug 1; 73(8): 1009–1016. doi: 10.1001/jamaneurol.2016.0449

PMCID:: PMC5426359

Abstract Article PDF–526K

Select item 53010789.

Altered Channel Conductance States and Gating of GABA_A Receptors by a Pore Mutation Linked to Dravet Syndrome

Ciria C. Hernandez, Weijing Kong, Ningning Hu, Yujia Zhang, Wangzhen Shen, Laurel Jackson, Xiaoyan Liu, Yuwu Jiang, Robert L. Macdonald

eNeuro. 2017 Jan-Feb; 4(1): ENEURO.0251-16.2017. Prepublished online 2017 Jan 31. Published online 2017 Feb 10. doi: 10.1523/ENEURO.0251-16.2017

PMCID:: PMC5301078

Abstract Article PDF–6.6M

Select item 522606010.

De novo GABRG2 mutations associated with epileptic encephalopathies

Dingding Shen, Ciria C Hernandez, Wangzhen Shen, Ningning Hu, Annapurna Poduri, Beth Shiedley, Alex Rotenberg, Alexandre N Datta, Steffen Leiz, Steffi Patzer, Rainer Boor, Kerri Ramsey, Ethan Goldberg, Ingo Helbig, Xilma R Ortiz-Gonzalez, Johannes R Lemke, Eric D Marsh, Robert L Macdonald

Brain. 2017 Jan; 140(1): 49–67. Published online 2016 Nov 17. doi: 10.1093/brain/aww272

PMCID:: PMC5226060

Abstract Article PDF–1.4M

Select item 507188011.

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

Juexin Wang, Dingding Shen, Geqing Xia, Wangzhen Shen, Robert L. Macdonald, Dong Xu, Jing-Qiong Kang

Sci Rep. 2016; 6: 35294. Published online 2016 Oct 20. doi: 10.1038/srep35294

PMCID:: PMC5071880

Abstract Article PDF–2.0M

Select item 422274412.

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

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

Neurobiol Dis. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Neurobiol Dis. 2014 Apr; 64: 131–141. Published online 2014 Jan 7. doi: 10.1016/j.nbd.2013.12.013

PMCID:: PMC4222744

Abstract Article PDF–798K

Select item 416907513.

Three Epilepsy-Associated GABRG2 Missense Mutations at the γ+/β− interface Disrupt GABA_A Receptor Assembly and trafficking by Similar MeChanisms but to Different Extents

Xuan Huang, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald

Neurobiol Dis. Author manuscript; available in PMC 2014 Sep 19.

Published in final edited form as: Neurobiol Dis. 2014 Aug; 68: 167–179. Published online 2014 May 4. doi: 10.1016/j.nbd.2014.04.015

PMCID:: PMC4169075

Abstract Article PDF–1.8M

Select item 383925514.

TRAFFICKING-DEFICIENT MUTANT GABRG2 SUBUNIT AMOUNT MAY MODIFY EPILEPSY PHENOTYPE

Jing-Qiong Kang, Wangzhen Shen, Robert L. Macdonald

Ann Neurol. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Ann Neurol. 2013 Oct; 74(4): 10.1002/ana.23947. Published online 2013 Sep 16. doi: 10.1002/ana.23947

PMCID:: PMC3839255

Abstract Article PDF–5.6M

Select item 376269915.

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

Mengnan Tian, Davide Mei, Elena Freri, Ciria C. Hernandez, Tiziana Granata, Wangzhen Shen, Robert L. Macdonald, Renzo Guerrini

Neurobiol Dis. Author manuscript; available in PMC 2013 Sep 4.

Published in final edited form as: Neurobiol Dis. 2013 Feb; 50: 135–141. Published online 2012 Oct 13. doi: 10.1016/j.nbd.2012.10.008

PMCID:: PMC3762699

Abstract Article PDF–1.2M

Select item 376246416.

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 Read-through

Xuan Huang, Mengnan Tian, Ciria C. Hernandez, Ningning Hu, Robert L. Macdonald

Neurobiol Dis. Author manuscript; available in PMC 2013 Oct 1.

Published in final edited form as: Neurobiol Dis. 2012 Oct; 48(1): 115–123. Published online 2012 Jun 30. doi: 10.1016/j.nbd.2012.06.013

PMCID:: PMC3762464

Abstract Article PDF–863K

Select item 335739817.

The Intronic GABRG2 Mutation, IVS6+2T→G, Associated with Childhood Absence Epilepsy Altered Subunit mRNA Intron Splicing, Activated Nonsense-Mediated Decay, and Produced a Stable Truncated γ2 Subunit

Mengnan Tian, Robert L. Macdonald

J Neurosci. 2012 Apr 25; 32(17): 5937–5952. doi: 10.1523/JNEUROSCI.5332-11.2012

PMCID:: PMC3357398

Abstract Article PDF–2.4M

Select item 335470318.

Temperature elevation increases GABA_A-mediated cortical inhibition in a mouse model of genetic epilepsy

Elisa L. Hill, Suzanne Hosie, Rachel S. Mulligan, Kay L. Richards, Philip J. Davies, Celine M. Dubé, Tallie Z. Baram, Christopher A. Reid, Mathew V. Jones, Steven Petrou

Epilepsia. Author manuscript; available in PMC 2012 May 17.

Published in final edited form as: Epilepsia. 2011 Jan; 52(1): 179–184. Published online 2010 Dec 22. doi: 10.1111/j.1528-1167.2010.02914.x

PMCID:: PMC3354703

Abstract Article PDF–866K

Select item 276242619.

Decreased GABA_A receptors and benzodiazepine binding sites in the anterior cingulate cortex in autism

A. Oblak, T.T. Gibbs, G.J. Blatt

Autism Res. Author manuscript; available in PMC 2010 Aug 1.

Published in final edited form as: Autism Res. 2009 Aug; 2(4): 205–219. doi: 10.1002/aur.88

Correction in:: volume 2 on page 237

PMCID:: PMC2762426

Abstract Article PDF–1.1M

Select item 273039320.

Inverse Effects on Gating and Modulation Caused by a Mutation in the M2-M3 Linker of the GABA_A Receptor γ Subunit

Sean M. O'Shea, Carrie A. Williams, Andrew Jenkins

Mol Pharmacol. 2009 Sep; 76(3): 641–651. Published online 2009 Jun 24. doi: 10.1124/mol.109.055111

PMCID:: PMC2730393

Abstract Article PDF–593K

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