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: R177G

PubMed Link: 36979350

Variant Present in the following documents:

• biomolecules-13-00414.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GABRG2: 529C>G; Arg177Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: R177G

PubMed Link: 36425336

Variant Present in the following documents:

• BMRI2022-3460792.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: 529C>G; Arg177Gly

PubMed Link: 35718920

Variant Present in the following documents:

• EPI-63-2519-s001.xlsx, sheet 1

View BVdb publication page

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Disruption of the Ubiquitin-Proteasome System and Elevated Endoplasmic Reticulum Stress in Epilepsy.

Biomedicines

Poliquin, Sarah S; Kang, Jing-Qiong JQ

Publication Date: 2022-03-11

Variant appearance in text: GABRG2: R177G

PubMed Link: 35327449

Variant Present in the following documents:

• Main text
• biomedicines-10-00647.pdf

View BVdb publication page

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Febrile seizures: an overview.

Drugs In Context

Leung, Alexander Kc AK; Hon, Kam Lun KL; Leung, Theresa Nh TN

Publication Date: 2018

Variant appearance in text: GABRG2: R177G

PubMed Link: 30038660

Variant Present in the following documents:

• dic-7-212536.pdf

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SAHA (Vorinostat) Corrects Inhibitory Synaptic Deficits Caused by Missense Epilepsy Mutations to the GABAA Receptor γ2 Subunit.

Frontiers In Molecular Neuroscience

Durisic, Nela N; Keramidas, Angelo A; Dixon, Christine L CL; Lynch, Joseph W JW

Publication Date: 2018

Variant appearance in text: GABRG2: R177G

PubMed Link: 29628874

Variant Present in the following documents:

• fnmol-11-00089.pdf

View BVdb publication page

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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: R177G

PubMed Link: 29142081

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

PubMed Link: 27367160

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

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: R177G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: R177G

PubMed Link: 25904555

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

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: R177G

PubMed Link: 25124326

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Neurobiology Of Disease

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

Publication Date: 2014-08

Variant appearance in text: GABRG2: R177G

PubMed Link: 24798517

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

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: R177G

PubMed Link: 20308251

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R177G

PubMed Link: 19717338

Variant Present in the following documents:

• Main text

View BVdb publication page

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