Publications:

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Molecular mechanism of hyperactivation conferred by a truncation of TRPA1.

Nature Communications

Bali, Avnika A; Schaefer, Samantha P SP; Trier, Isabelle I; Zhang, Alice L AL; Kabeche, Lilian L; Paulsen, Candice E CE

Publication Date: 2023-05-19

Variant appearance in text: GABRG2: Q40X

PubMed Link: 37208332

Variant Present in the following documents:

• 41467_2023_Article_38542.pdf

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

Biomed Research International

Saleem, Tayyaba T; Maqbool, Hafsa H; Sheikh, Nadeem N; Tayyeb, Asima A; Mukhtar, Maryam M; Ashfaq, Aqsa A

Publication Date: 2022

Variant appearance in text: GABRG2: Q40X

PubMed Link: 36425336

Variant Present in the following documents:

• BMRI2022-3460792.pdf

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Variable Expression of GABAA Receptor Subunit Gamma 2 Mutation in a Nuclear Family Displaying Developmental and Encephalopathic Phenotype.

International Journal Of Molecular Sciences

Nwosu, Gerald G; Reddy, Shilpa B SB; Riordan, Heather Rose Mead HRM; Kang, Jing-Qiong JQ

Publication Date: 2022-08-26

Variant appearance in text: GABRG2: Q40X

PubMed Link: 36077081

Variant Present in the following documents:

• ijms-23-09683.pdf

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Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Epilepsia

Maillard, Pierre-Yves PY; Baer, Sarah S; Schaefer, Élise É; Desnous, Béatrice B; Villeneuve, Nathalie N; Lépine, Anne A; Fabre, Alexandre A; Lacoste, Caroline C; El Chehadeh, Salima S; Piton, Amélie A; Porter, Louise Frances LF; Perriard, Caroline C; Wardé, Marie-Thérèse Abi MA; Spitz, Marie-Aude MA; Laugel, Vincent V; Lesca, Gaëtan G; Putoux, Audrey A; Ville, Dorothée D; Mignot, Cyril C; Héron, Delphine D; Nabbout, Rima R; Barcia, Giulia G; Rio, Marlène M; Roubertie, Agathe A; Meyer, Pierre P; Paquis-Flucklinger, Véronique V; Patat, Olivier O; Lefranc, Jérémie J; Gerard, Marion M; , ; de Bellescize, Julietta J; Villard, Laurent L; De Saint Martin, Anne A; Milh, Mathieu M

Publication Date: 2022-10

Variant appearance in text: GABRG2: 118C>T; Gln40*

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1

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Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Frontiers In Neurology

Ding, Jiangwei J; Wang, Lei L; Jin, Zhe Z; Qiang, Yuanyuan Y; Li, Wenchao W; Wang, Yangyang Y; Zhu, Changliang C; Jiang, Shucai S; Xiao, Lifei L; Hao, Xiaoyan X; Hu, Xulei X; Li, Xinxiao X; Wang, Feng F; Sun, Tao T

Publication Date: 2022

Variant appearance in text: GABRG2: 118C>T; Q40X

PubMed Link: 35359639

Variant Present in the following documents:

• Main text
• fneur-13-832380.pdf

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Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors.

Brain Communications

Hernandez, Ciria C CC; Tian, XiaoJuan X; Hu, Ningning N; Shen, Wangzhen W; Catron, Mackenzie A MA; Yang, Ying Y; Chen, Jiaoyang J; Jiang, Yuwu Y; Zhang, Yuehua Y; Macdonald, Robert L RL

Publication Date: 2021

Variant appearance in text: GABRG2: Q40X

PubMed Link: 34095830

Variant Present in the following documents:

• fcab033.pdf

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Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders.

Frontiers In Molecular Neuroscience

Ali Rodriguez, Rachel R; Joya, Christina C; Hines, Rochelle M RM

Publication Date: 2018

Variant appearance in text: GABRG2: Q40X

PubMed Link: 29740280

Variant Present in the following documents:

• fnmol-11-00132.pdf

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Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.

The Journal Of Pharmacology And Experimental Therapeutics

Chuang, Shu-Hui SH; Reddy, Doodipala Samba DS

Publication Date: 2018-02

Variant appearance in text: GABRG2: Q40X

PubMed Link: 29142081

Variant Present in the following documents:

• Main text

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Missense Is No Nonsense for Epileptic Encephalopathies.

Epilepsy Currents

Pirone, Antonella A; Dulla, Chris C

Publication Date: 2017

Variant appearance in text: GABRG2: Q40X

PubMed Link: 28684954

Variant Present in the following documents:

• Main text

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GABRG2: Q40X

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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

Eneuro

Hernandez, Ciria C CC; Kong, Weijing W; Hu, Ningning N; Zhang, Yujia Y; Shen, Wangzhen W; Jackson, Laurel L; Liu, Xiaoyan X; Jiang, Yuwu Y; Macdonald, Robert L RL

Publication Date: 2017

Variant appearance in text: GABRG2: Q40X

PubMed Link: 28197552

Variant Present in the following documents:

• Main text
• ENEURO.0251-16.2017.pdf

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Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome.

Jama Neurology

Kang, Jing-Qiong JQ; Macdonald, Robert L RL

Publication Date: 2016-08-01

Variant appearance in text: GABRG2: Q40X

PubMed Link: 27367160

Variant Present in the following documents:

• Main text

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Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy.

Human Molecular Genetics

Warner, Timothy A TA; Shen, Wangzhen W; Huang, Xuan X; Liu, Zhong Z; Macdonald, Robert L RL; Kang, Jing-Qiong JQ

Publication Date: 2016-08-01

Variant appearance in text: GABRG2: Q40X

PubMed Link: 27340224

Variant Present in the following documents:

• Main text

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Mutations in GABRG2 receptor gene are not a major factor in the pathogenesis of mesial temporal lobe epilepsy in Indian population.

Annals Of Indian Academy Of Neurology

Dixit, Aparna Banerjee AB; Banerjee, Jyotirmoy J; Ansari, Abuzar A; Tripathi, Manjari M; Chandra, Sarat P SP

Publication Date: 2016

Variant appearance in text: GABRG2: Q40X

PubMed Link: 27293336

Variant Present in the following documents:

• Main text
• AIAN-19-236.pdf

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Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Human Molecular Genetics

Schwarz, Nele N; Carr, Amanda-Jayne AJ; Lane, Amelia A; Moeller, Fabian F; Chen, Li Li LL; Aguilà, Mònica M; Nommiste, Britta B; Muthiah, Manickam N MN; Kanuga, Naheed N; Wolfrum, Uwe U; Nagel-Wolfrum, Kerstin K; da Cruz, Lyndon L; Coffey, Peter J PJ; Cheetham, Michael E ME; Hardcastle, Alison J AJ

Publication Date: 2015-02-15

Variant appearance in text: GABRG2: Q40X

PubMed Link: 25292197

Variant Present in the following documents:

• ddu509.pdf

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E(R)-GADD! Exploring Mutations in Generalized Epilepsy.

Epilepsy Currents

Hartman, Adam L AL

Publication Date: 2014-07

Variant appearance in text: GABRG2: Q40X

PubMed Link: 25170319

Variant Present in the following documents:

• Main text

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A novel variant in GABRB2 associated with intellectual disability and epilepsy.

American Journal Of Medical Genetics. Part A

Srivastava, Siddharth S; Cohen, Julie J; Pevsner, Jonathan J; Aradhya, Swaroop S; McKnight, Dianalee D; Butler, Elizabeth E; Johnston, Michael M; Fatemi, Ali A

Publication Date: 2014-11

Variant appearance in text: GABRG2: Q40X

PubMed Link: 25124326

Variant Present in the following documents:

• Main text

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Channelopathies.

Korean Journal Of Pediatrics

Kim, June-Bum JB

Publication Date: 2014-01

Variant appearance in text: GABRG2: Q40X

PubMed Link: 24578711

Variant Present in the following documents:

• kjped-57-1.pdf

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

Neurobiology Of Disease

Johnston, Ann J AJ; Kang, Jing-Qiong JQ; Shen, Wangzhen W; Pickrell, William O WO; Cushion, Thomas D TD; Davies, Jeffrey S JS; Baer, Kristin K; Mullins, Jonathan G L JGL; Hammond, Carrie L CL; Chung, Seo-Kyung SK; Thomas, Rhys H RH; White, Cathy C; Smith, Phil E M PEM; Macdonald, Robert L RL; Rees, Mark I MI

Publication Date: 2014-04

Variant appearance in text: GABRG2: Q40X

PubMed Link: 24407264

Variant Present in the following documents:

• Main text

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Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

Annals Of Neurology

Kang, Jing-Qiong JQ; Shen, Wangzhen W; Macdonald, Robert L RL

Publication Date: 2013-10

Variant appearance in text: GABRG2: Q40X

PubMed Link: 23720301

Variant Present in the following documents:

• Main text

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mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.

Epilepsia

Macdonald, Robert L RL; Kang, Jing-Qiong JQ

Publication Date: 2012-12

Variant appearance in text: GABRG2: Q40X

PubMed Link: 23216579

Variant Present in the following documents:

• Main text

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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.

Neurobiology Of Disease

Huang, Xuan X; Tian, Mengnan M; Hernandez, Ciria C CC; Hu, Ningning N; Macdonald, Robert L RL

Publication Date: 2012-10

Variant appearance in text: GABRG2: Q40X

PubMed Link: 22750526

Variant Present in the following documents:

• Main text

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Mutations affecting GABAergic signaling in seizures and epilepsy.

Pflugers Archiv : European Journal Of Physiology

Galanopoulou, Aristea S AS

Publication Date: 2010-07

Variant appearance in text: GABRG2: Q40X

PubMed Link: 20352446

Variant Present in the following documents:

• Main text

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Mutations in GABAA receptor subunits associated with genetic epilepsies.

The Journal Of Physiology

Macdonald, Robert L RL; Kang, Jing-Qiong JQ; Gallagher, Martin J MJ

Publication Date: 2010-06-01

Variant appearance in text: GABRG2: Q40X

PubMed Link: 20308251

Variant Present in the following documents:

• Main text

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Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.

Trends In Molecular Medicine

Kang, Jing-Qiong JQ; Macdonald, Robert L RL

Publication Date: 2009-09

Variant appearance in text: GABRG2: Q40X

PubMed Link: 19717338

Variant Present in the following documents:

• Main text

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