Publications:

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: GABRB3: G32R

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.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: GABRB3: G32R

PubMed Link: 36077081

Variant Present in the following documents:

• ijms-23-09683.pdf

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Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Nature Communications

Absalom, Nathan L NL; Liao, Vivian W Y VWY; Johannesen, Katrine M H KMH; Gardella, Elena E; Jacobs, Julia J; Lesca, Gaetan G; Gokce-Samar, Zeynep Z; Arzimanoglou, Alexis A; Zeidler, Shimriet S; Striano, Pasquale P; Meyer, Pierre P; Benkel-Herrenbrueck, Ira I; Mero, Inger-Lise IL; Rummel, Jutta J; Chebib, Mary M; Møller, Rikke S RS; Ahring, Philip K PK

Publication Date: 2022-04-05

Variant appearance in text: GABRB3: Gly32Arg

PubMed Link: 35383156

Variant Present in the following documents:

• Main text
• 41467_2022_29280_MOESM1_ESM.pdf
• 41467_2022_Article_29280.pdf

View BVdb publication page

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MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins.

Computational And Structural Biotechnology Journal

Ge, Fang F; Zhu, Yi-Heng YH; Xu, Jian J; Muhammad, Arif A; Song, Jiangning J; Yu, Dong-Jun DJ

Publication Date: 2021

Variant appearance in text: GABRB3: G32R

PubMed Link: 34938415

Variant Present in the following documents:

• main.pdf

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Intricacies of GABAA Receptor Function: The Critical Role of the β3 Subunit in Norm and Pathology.

International Journal Of Molecular Sciences

Menzikov, Sergey A SA; Morozov, Sergey G SG; Kubatiev, Aslan A AA

Publication Date: 2021-02-01

Variant appearance in text: GABRB3: G32R

PubMed Link: 33535681

Variant Present in the following documents:

• Main text
• ijms-22-01457.pdf

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Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences

Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R

Publication Date: 2020-10-21

Variant appearance in text: GABRB3: G32R; rs71651682

PubMed Link: 33096746

Variant Present in the following documents:

• Main text
• ijms-21-07784.pdf

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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: GABRB3: G32R; rs71651682

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.

Molecular Brain

Bai, Yun-Fei YF; Chiu, Michelle M; Chan, Elizabeth S ES; Axerio-Cilies, Peter P; Lu, Jie J; Huh, Linda L; Connolly, Mary B MB; Guella, Ilaria I; Farrer, Matthew J MJ; Xu, Zhi-Qing David ZD; Liu, Lidong L; Demos, Michelle M; Wang, Yu Tian YT

Publication Date: 2019-11-10

Variant appearance in text: GABRB3: G32R

PubMed Link: 31707987

Variant Present in the following documents:

• 13041_2019_Article_513.pdf

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A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Cold Spring Harbor Molecular Case Studies

Ji, Jianling J; Shen, Lishuang L; Bootwalla, Moiz M; Quindipan, Catherine C; Tatarinova, Tatiana T; Maglinte, Dennis T DT; Buckley, Jonathan J; Raca, Gordana G; Saitta, Sulagna C SC; Biegel, Jaclyn A JA; Gai, Xiaowu X

Publication Date: 2019-04

Variant appearance in text: GABRB3: 94G>A; Gly32Arg

PubMed Link: 30755392

Variant Present in the following documents:

• supp_mcs.a003756_Supplemental_Table_1.xlsx, sheet 1

View BVdb publication page

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Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.

Medicine

Zhang, Yi Y; Lian, Yajun Y; Xie, Nanchang N

Publication Date: 2017-12

Variant appearance in text: GABRB3: 94G>A

PubMed Link: 29390378

Variant Present in the following documents:

• Main text
• medi-96-e9273.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: GABRB3: G32R

PubMed Link: 29142081

Variant Present in the following documents:

• Main text

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Differential Alteration in Expression of Striatal GABAAR Subunits in Mouse Models of Huntington's Disease.

Frontiers In Molecular Neuroscience

Du, Zhuowei Z; Tertrais, Margot M; Courtand, Gilles G; Leste-Lasserre, Thierry T; Cardoit, Laura L; Masmejean, Frédérique F; Halgand, Christophe C; Cho, Yoon H YH; Garret, Maurice M

Publication Date: 2017

Variant appearance in text: GABRB3: G32R

PubMed Link: 28676743

Variant Present in the following documents:

• fnmol-10-00198.pdf

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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: GABRB3: G32R

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: GABRB3: G32R

PubMed Link: 28197552

Variant Present in the following documents:

• ENEURO.0251-16.2017.pdf

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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: GABRB3: G32R

PubMed Link: 27622563

Variant Present in the following documents:

• pone.0162883.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GABRB3: 94G>A; G32R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Developmental Medicine And Child Neurology

Papandreou, Apostolos A; McTague, Amy A; Trump, Natalie N; Ambegaonkar, Gautam G; Ngoh, Adeline A; Meyer, Esther E; Scott, Richard H RH; Kurian, Manju A MA

Publication Date: 2016-04

Variant appearance in text: GABRB3: 94G>A; Gly32Arg

PubMed Link: 26645412

Variant Present in the following documents:

• Main text
• DMCN-58-416.pdf

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Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

Journal Of Neurology, Neurosurgery, And Psychiatry

Spillane, J J; Kullmann, D M DM; Hanna, M G MG

Publication Date: 2016-01

Variant appearance in text: N/A

PubMed Link: 26558925

Variant Present in the following documents:

View BVdb publication page

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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: GABRB3: G32R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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: N/A

PubMed Link: 25904555

Variant Present in the following documents:

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: GABRB3: G32R

PubMed Link: 25352779

Variant Present in the following documents:

• 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: GABRB3: G32R

PubMed Link: 25124326

Variant Present in the following documents:

• Main text

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Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders.

Molecular Autism

Chen, Chia-Hsiang CH; Huang, Chia-Chun CC; Cheng, Min-Chih MC; Chiu, Yen-Nan YN; Tsai, Wen-Che WC; Wu, Yu-Yu YY; Liu, Shih-Kai SK; Gau, Susan Shur-Fen SS

Publication Date: 2014

Variant appearance in text: GABRB3: G32R

PubMed Link: 24999380

Variant Present in the following documents:

• Main text

View BVdb publication page

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Crystal structure of a human GABAA receptor.

Nature

Miller, Paul S PS; Aricescu, A Radu AR

Publication Date: 2014-08-21

Variant appearance in text: GABRB3: G32R

PubMed Link: 24909990

Variant Present in the following documents:

• emss-57867.pdf

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The impact of tonic GABAA receptor-mediated inhibition on neuronal excitability varies across brain region and cell type.

Frontiers In Neural Circuits

Lee, Vallent V; Maguire, Jamie J

Publication Date: 2014

Variant appearance in text: GABRB3: G32R

PubMed Link: 24550784

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide Membrane Protein Structure Prediction.

Current Genomics

Piccoli, Stefano S; Suku, Eda E; Garonzi, Marianna M; Giorgetti, Alejandro A

Publication Date: 2013-08

Variant appearance in text: GABRB3: G32R

PubMed Link: 24403851

Variant Present in the following documents:

• CG-14-324.pdf

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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: GABRB3: G32R

PubMed Link: 23216579

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A.

Epilepsia

Tanaka, Miyabi M; Bailey, Julia N JN; Bai, Dongsheng D; Ishikawa-Brush, Yumiko Y; Delgado-Escueta, Antonio V AV; Olsen, Richard W RW

Publication Date: 2012-08

Variant appearance in text: GABRB3: G32R

PubMed Link: 22765836

Variant Present in the following documents:

• Main text

View BVdb publication page

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The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression.

The Journal Of Physiology

Hernandez, Ciria C CC; Gurba, Katharine N KN; Hu, Ningning N; Macdonald, Robert L RL

Publication Date: 2011-12-01

Variant appearance in text: GABRB3: G32R

PubMed Link: 21930603

Variant Present in the following documents:

• Main text

View BVdb publication page

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Axon initial segment dysfunction in epilepsy.

The Journal Of Physiology

Wimmer, Verena C VC; Reid, Christopher A CA; So, Eva Y-W EY; Berkovic, Samuel F SF; Petrou, Steven S

Publication Date: 2010-06-01

Variant appearance in text: GABRB3: G32R

PubMed Link: 20375142

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: GABRB3: G32R

PubMed Link: 20352446

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: GABRB3: G32R

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: GABRB3: G32R

PubMed Link: 19717338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.

Epilepsy Currents

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

Publication Date: 2009

Variant appearance in text: N/A

PubMed Link: 19396344

Variant Present in the following documents:

View BVdb publication page

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Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

American Journal Of Human Genetics

Tanaka, Miyabi M; Olsen, Richard W RW; Medina, Marco T MT; Schwartz, Emily E; Alonso, Maria Elisa ME; Duron, Reyna M RM; Castro-Ortega, Ramon R; Martinez-Juarez, Iris E IE; Pascual-Castroviejo, Ignacio I; Machado-Salas, Jesus J; Silva, Rene R; Bailey, Julia N JN; Bai, Dongsheng D; Ochoa, Adriana A; Jara-Prado, Aurelio A; Pineda, Gregorio G; Macdonald, Robert L RL; Delgado-Escueta, Antonio V AV

Publication Date: 2008-06

Variant appearance in text: GABRB3: Gly32Arg

PubMed Link: 18514161

Variant Present in the following documents:

• Main text

View BVdb publication page

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