Publications:

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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: KCNQ2: 635A>G; Asp212Gly

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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High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.

Jci Insight

Vanoye, Carlos G CG; Desai, Reshma R RR; Ji, Zhigang Z; Adusumilli, Sneha S; Jairam, Nirvani N; Ghabra, Nora N; Joshi, Nishtha N; Fitch, Eryn E; Helbig, Katherine L KL; McKnight, Dianalee D; Lindy, Amanda S AS; Zou, Fanggeng F; Helbig, Ingo I; Cooper, Edward C EC; George, Alfred L AL

Publication Date: 2022-03-08

Variant appearance in text: KCNQ2: D212G

PubMed Link: 35104249

Variant Present in the following documents:

• jciinsight-7-156314-s080.xlsx, sheet 1
• jciinsight-7-156314-s079.xlsx, sheet 2
• jciinsight-7-156314-s079.xlsx, sheet 1
• jciinsight-7-156314-s080.xlsx, sheet 3
• jciinsight-7-156314-s078.xlsx, sheet 1
• jciinsight-7-156314-s077.xlsx, sheet 1
• jciinsight-7-156314-s080.xlsx, sheet 2
• jciinsight-7-156314-s077.xlsx, sheet 2
• jciinsight-7-156314-s078.xlsx, sheet 3
• jciinsight-7-156314-s077.xlsx, sheet 3
• jciinsight-7-156314-s075.pdf
• jciinsight-7-156314-s078.xlsx, sheet 2

View BVdb publication page

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Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.

Journal Of Chemical Information And Modeling

Alberini, Giulio G; Benfenati, Fabio F; Maragliano, Luca L

Publication Date: 2021-03-22

Variant appearance in text: Kv7.2: D212G

PubMed Link: 33570938

Variant Present in the following documents:

• Main text
• ci0c01407_si_001.pdf
• ci0c01407.pdf

View BVdb publication page

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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: KCNQ2: 635A>G; Asp212Gly

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Scientific Reports

Zhang, Jiaren J; Kim, Eung Chang EC; Chen, Congcong C; Procko, Erik E; Pant, Shashank S; Lam, Kin K; Patel, Jaimin J; Choi, Rebecca R; Hong, Mary M; Joshi, Dhruv D; Bolton, Eric E; Tajkhorshid, Emad E; Chung, Hee Jung HJ

Publication Date: 2020-03-16

Variant appearance in text: Kv7.2: 635A>G

PubMed Link: 32179837

Variant Present in the following documents:

• 41598_2020_61697_MOESM2_ESM.pdf

View BVdb publication page

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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: KCNQ2: 635A>G; Asp212Gly

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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: KCNQ2: D212G

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: KCNQ2: 635A>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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The Voltage-Sensing Domain of K(v)7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants.

Frontiers In Pharmacology

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Iannotti, Fabio Arturo FA; Barrese, Vincenzo V; Ambrosino, Paolo P; Martire, Maria M; Cilio, Maria Roberta MR; Taglialatela, Maurizio M

Publication Date: 2011

Variant appearance in text: Kv7.2: D212G

PubMed Link: 21687499

Variant Present in the following documents:

• fphar-02-00002.pdf

View BVdb publication page

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