Publications:

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GABRG2 Variants Associated with Febrile Seizures.

Biomolecules

Hernandez, Ciria C CC; Shen, Yanwen Y; Hu, Ningning N; Shen, Wangzhen W; Narayanan, Vinodh V; Ramsey, Keri K; He, Wen W; Zou, Liping L; Macdonald, Robert L RL

Publication Date: 2023-02-22

Variant appearance in text: GABRG2: K328M

PubMed Link: 36979350

Variant Present in the following documents:

• Main text
• biomolecules-13-00414.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: K328M

PubMed Link: 36425336

Variant Present in the following documents:

• BMRI2022-3460792.pdf

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Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model.

Translational Pediatrics

Ding, Jian J; Wang, Chun C; Huang, Guo-Qiang GQ; Zhang, Jing-Wen JW; Zhai, Qiong-Xiang QX; Chen, Zhi-Hong ZH; Zhang, Yu-Xin YX; Guo, Yu-Xiong YX

Publication Date: 2022-10

Variant appearance in text: GABRG2: K328M

PubMed Link: 36345448

Variant Present in the following documents:

• tp-11-10-1615.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: 983A>T; Lys328Met

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1

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

Neurobiology Of Disease

Qu, Shimian S; Zhou, Chengwen C; Howe, Rachel R; Shen, Wangzhen W; Huang, Xuan X; Catron, Mackenzie M; Hu, Ningning N; Macdonald, Robert L RL

Publication Date: 2021-05

Variant appearance in text: GABRG2: 983A>T; K328M

PubMed Link: 33582225

Variant Present in the following documents:

• Main text
• nihms-1708772.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: K328M

PubMed Link: 29142081

Variant Present in the following documents:

• Main text

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: GABRG2: 983A>T

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 1

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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: K328M

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: K328M

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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De novo GABRG2 mutations associated with epileptic encephalopathies.

Brain : A Journal Of Neurology

Shen, Dingding D; Hernandez, Ciria C CC; Shen, Wangzhen W; Hu, Ningning N; Poduri, Annapurna A; Shiedley, Beth B; Rotenberg, Alex A; Datta, Alexandre N AN; Leiz, Steffen S; Patzer, Steffi S; Boor, Rainer R; Ramsey, Kerri K; Goldberg, Ethan E; Helbig, Ingo I; Ortiz-Gonzalez, Xilma R XR; Lemke, Johannes R JR; Marsh, Eric D ED; Macdonald, Robert L RL

Publication Date: 2017-01

Variant appearance in text: GABRG2: K328M

PubMed Link: 27864268

Variant Present in the following documents:

• Main text

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

Plos One

Hernandez, Ciria C CC; Klassen, Tara L TL; Jackson, Laurel G LG; Gurba, Katharine K; Hu, Ningning N; Noebels, Jeffrey L JL; Macdonald, Robert L RL

Publication Date: 2016

Variant appearance in text: GABRG2: K328M

PubMed Link: 27622563

Variant Present in the following documents:

• Main text
• pone.0162883.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: K328M

PubMed Link: 27367160

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: K328M

PubMed Link: 27293336

Variant Present in the following documents:

• Main text
• AIAN-19-236.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GABRG2: K328M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Ionotropic GABA and Glutamate Receptor Mutations and Human Neurologic Diseases.

Molecular Pharmacology

Yuan, Hongjie H; Low, Chian-Ming CM; Moody, Olivia A OA; Jenkins, Andrew A; Traynelis, Stephen F SF

Publication Date: 2015-07

Variant appearance in text: GABRG2: K328M

PubMed Link: 25904555

Variant Present in the following documents:

• Main text

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Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.

Frontiers In Cellular Neuroscience

Lachance-Touchette, Pamela P; Choudhury, Mayukh M; Stoica, Ana A; Di Cristo, Graziella G; Cossette, Patrick P

Publication Date: 2014

Variant appearance in text: GABRG2: K328M

PubMed Link: 25352779

Variant Present in the following documents:

• Main text
• fncel-08-00317.pdf

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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: K328M

PubMed Link: 25124326

Variant Present in the following documents:

• Main text

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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: K328M

PubMed Link: 24407264

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: K328M

PubMed Link: 23216579

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: K328M

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: K328M

PubMed Link: 19717338

Variant Present in the following documents:

• Main text

View BVdb publication page

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