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: GluN2A: M817V

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: GRIN2A: 2449A>G; M817V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy.

Frontiers In Molecular Neuroscience

Chen, Shuang S; Xu, Da D; Fan, Liu L; Fang, Zhi Z; Wang, Xiufeng X; Li, Man M

Publication Date: 2021

Variant appearance in text: GluN2A: Met817Val

PubMed Link: 35069111

Variant Present in the following documents:

• Main text
• fnmol-14-797253.pdf

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Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.

Pharmacological Reviews

Hansen, Kasper B KB; Wollmuth, Lonnie P LP; Bowie, Derek D; Furukawa, Hiro H; Menniti, Frank S FS; Sobolevsky, Alexander I AI; Swanson, Geoffrey T GT; Swanger, Sharon A SA; Greger, Ingo H IH; Nakagawa, Terunaga T; McBain, Chris J CJ; Jayaraman, Vasanthi V; Low, Chian-Ming CM; Dell'Acqua, Mark L ML; Diamond, Jeffrey S JS; Camp, Chad R CR; Perszyk, Riley E RE; Yuan, Hongjie H; Traynelis, Stephen F SF

Publication Date: 2021-10

Variant appearance in text: GluN2A: M817V

PubMed Link: 34753794

Variant Present in the following documents:

• Main text
• pharmrev.120.000131.pdf

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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

Frontiers In Molecular Neuroscience

Liu, Xiao-Rong XR; Xu, Xing-Xing XX; Lin, Si-Mei SM; Fan, Cui-Ying CY; Ye, Ting-Ting TT; Tang, Bin B; Shi, Yi-Wu YW; Su, Tao T; Li, Bing-Mei BM; Yi, Yong-Hong YH; Luo, Jian-Hong JH; Liao, Wei-Ping WP

Publication Date: 2021

Variant appearance in text: GRIN2A: 2449A>G

PubMed Link: 34720871

Variant Present in the following documents:

• Main text
• fnmol-14-720984.pdf

View BVdb publication page

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2A: M817V

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: GRIN2A: 2449A>G; Met817Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 5
• aba1773_Data_file_S1.xlsx, sheet 4
• aba1773_Data_file_S1.xlsx, sheet 2
• aba1773_Data_file_S1.xlsx, sheet 3

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Synaptic GluN2A-Containing NMDA Receptors: From Physiology to Pathological Synaptic Plasticity.

International Journal Of Molecular Sciences

Franchini, Luca L; Carrano, Nicolò N; Di Luca, Monica M; Gardoni, Fabrizio F

Publication Date: 2020-02-24

Variant appearance in text: GluN2A: M817V

PubMed Link: 32102377

Variant Present in the following documents:

• Main text
• ijms-21-01538.pdf

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Functional significance of U2AF1 S34F mutations in lung adenocarcinomas.

Nature Communications

Esfahani, Mohammad S MS; Lee, Luke J LJ; Jeon, Young-Jun YJ; Flynn, Ryan A RA; Stehr, Henning H; Hui, Angela B AB; Ishisoko, Noriko N; Kildebeck, Eric E; Newman, Aaron M AM; Bratman, Scott V SV; Porteus, Matthew H MH; Chang, Howard Y HY; Alizadeh, Ash A AA; Diehn, Maximilian M

Publication Date: 2019-12-13

Variant appearance in text: GRIN2A: M817V

PubMed Link: 31836708

Variant Present in the following documents:

• 41467_2019_13392_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy.

International Journal Of Molecular Sciences

Naimo, Giuseppina Daniela GD; Guarnaccia, Maria M; Sprovieri, Teresa T; Ungaro, Carmine C; Conforti, Francesca Luisa FL; Andò, Sebastiano S; Cavallaro, Sebastiano S

Publication Date: 2019-07-30

Variant appearance in text: GRIN2A: M817V

PubMed Link: 31366017

Variant Present in the following documents:

• Main text
• ijms-20-03717.pdf
• ijms-20-03717-s001.pdf

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A conserved glycine harboring disease-associated mutations permits NMDA receptor slow deactivation and high Ca2+ permeability.

Nature Communications

Amin, Johansen B JB; Leng, Xiaoling X; Gochman, Aaron A; Zhou, Huan-Xiang HX; Wollmuth, Lonnie P LP

Publication Date: 2018-09-14

Variant appearance in text: GluN2A: M817V

PubMed Link: 30217972

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6145.pdf
• 41467_2018_6145_MOESM1_ESM.pdf

View BVdb publication page

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GluN2A: 2449A>G

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Liu, Xiao-Rong XR; Fan, Cui-Ying CY; Lai, Jin-Xing JX; Shi, Yi-Wu YW; Yang, Wei W; Su, Tao T; Xu, Jun-Yu JY; Luo, Jian-Hong JH; Liao, Wei-Ping WP

Publication Date: 2018-04

Variant appearance in text: GRIN2A: M817V

PubMed Link: 28936771

Variant Present in the following documents:

• Main text

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: GRIN2A: 2449A>G; Met817Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: GRIN2A: 2449A>G; Met817Val

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.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: GRIN2A: M817V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.

Molecular Pharmacology

Chen, Wenjuan W; Tankovic, Anel A; Burger, Pieter B PB; Kusumoto, Hirofumi H; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2017-04

Variant appearance in text: GRIN2A: 2449A>G

PubMed Link: 28126851

Variant Present in the following documents:

• Main text

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Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

Plos Genetics

Ogden, Kevin K KK; Chen, Wenjuan W; Swanger, Sharon A SA; McDaniel, Miranda J MJ; Fan, Linlin Z LZ; Hu, Chun C; Tankovic, Anel A; Kusumoto, Hirofumi H; Kosobucki, Gabrielle J GJ; Schulien, Anthony J AJ; Su, Zhuocheng Z; Pecha, Joseph J; Bhattacharya, Subhrajit S; Petrovski, Slavé S; Cohen, Adam E AE; Aizenman, Elias E; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2017-01

Variant appearance in text: GRIN2A: 2449A>G; Met817Val

PubMed Link: 28095420

Variant Present in the following documents:

• pgen.1006536.s009.pdf

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