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: 916G>A; Ala306Thr

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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Mouse models of Kcnq2 dysfunction.

Epilepsia

Brun, Lucile L; Viemari, Jean-Charles JC; Villard, Laurent L

Publication Date: 2022-11

Variant appearance in text: KCNQ2: A306T

PubMed Link: 36047730

Variant Present in the following documents:

• Main text
• EPI-63-2813.pdf

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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: A306T

PubMed Link: 35104249

Variant Present in the following documents:

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

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Activation of SGK1.1 Upregulates the M-current in the Presence of Epilepsy Mutations.

Frontiers In Molecular Neuroscience

Martin-Batista, Elva E; Manville, Rían W RW; Rivero-Pérez, Belinda B; Bartolomé-Martín, David D; Alvarez de la Rosa, Diego D; Abbott, Geoffrey W GW; Giraldez, Teresa T

Publication Date: 2021

Variant appearance in text: Kv7.2: A306T

PubMed Link: 34899186

Variant Present in the following documents:

• Main text
• fnmol-14-798261.pdf

View BVdb publication page

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A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.

Epilepsia

Milh, Mathieu M; Roubertoux, Pierre P; Biba, Najoua N; Chavany, Julie J; Spiga Ghata, Adeline A; Fulachier, Camille C; Collins, Stephan Christopher SC; Wagner, Christel C; Roux, Jean-Christophe JC; Yalcin, Binnaz B; Félix, Marie-Solenne MS; Molinari, Florence F; Lenck-Santini, Pierre-Pascal PP; Villard, Laurent L

Publication Date: 2020-05

Variant appearance in text: KCNQ2: Ala306Thr

PubMed Link: 32239694

Variant Present in the following documents:

• Main text

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: 916G>A

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: 916G>A; Ala306Thr

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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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: KCNQ2: 916G>A; A306T

PubMed Link: 28717674

Variant Present in the following documents:

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

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ2: 916G>A; Ala306Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: A306T

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pore size matters for potassium channel conductance.

The Journal Of General Physiology

Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I

Publication Date: 2016-10

Variant appearance in text: KCNQ2: A306T

PubMed Link: 27619418

Variant Present in the following documents:

• Main text
• JGP_201611625.pdf

View BVdb publication page

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: KCNQ2: A306T

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: KCNQ2: A306T

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations.

Plos One

Ihara, Yukiko Y; Tomonoh, Yuko Y; Deshimaru, Masanobu M; Zhang, Bo B; Uchida, Taku T; Ishii, Atsushi A; Hirose, Shinichi S

Publication Date: 2016

Variant appearance in text: KCNQ2: A306T

PubMed Link: 26910900

Variant Present in the following documents:

• Main text
• pone.0150095.pdf

View BVdb publication page

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Neonatal and Infantile Epilepsy: Acquired and Genetic Models.

Cold Spring Harbor Perspectives In Medicine

Galanopoulou, Aristea S AS; Moshé, Solomon L SL

Publication Date: 2015-12-04

Variant appearance in text: KCNQ2: A306T

PubMed Link: 26637437

Variant Present in the following documents:

• Main text

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: KCNQ2: A306T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models.

Neurotherapeutics : The Journal Of The American Society For Experimental Neurotherapeutics

Guerrini, Renzo R; Marini, Carla C; Mantegazza, Massimo M

Publication Date: 2014-04

Variant appearance in text: KCNQ2: A306T

PubMed Link: 24664660

Variant Present in the following documents:

• Main text

View BVdb publication page

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The kick-in system: a novel rapid knock-in strategy.

Plos One

Tomonoh, Yuko Y; Deshimaru, Masanobu M; Araki, Kimi K; Miyazaki, Yasuhiro Y; Arasaki, Tomoko T; Tanaka, Yasuyoshi Y; Kitamura, Haruna H; Mori, Fumiaki F; Wakabayashi, Koichi K; Yamashita, Sayaka S; Saito, Ryo R; Itoh, Masayuki M; Uchida, Taku T; Yamada, Junko J; Migita, Keisuke K; Ueno, Shinya S; Kitaura, Hiroki H; Kakita, Akiyoshi A; Lossin, Christoph C; Takano, Yukio Y; Hirose, Shinichi S

Publication Date: 2014

Variant appearance in text: Kv7.2: Ala306Thr

PubMed Link: 24586341

Variant Present in the following documents:

• Main text
• pone.0088549.pdf

View BVdb publication page

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Voltage-gated potassium channels at the crossroads of neuronal function, ischemic tolerance, and neurodegeneration.

Translational Stroke Research

Shah, Niyathi Hegde NH; Aizenman, Elias E

Publication Date: 2014-02

Variant appearance in text: Kv7.2: A306T

PubMed Link: 24323720

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of KCNQ2 gene truncation on M-type Kv7 potassium currents.

Plos One

Robbins, Jon J; Passmore, Gayle M GM; Abogadie, Fe C FC; Reilly, Joanne M JM; Brown, David A DA

Publication Date: 2013

Variant appearance in text: KCNQ2: A306T

PubMed Link: 23977150

Variant Present in the following documents:

• Main text
• pone.0071809.pdf

View BVdb publication page

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Ion channels in genetic and acquired forms of epilepsy.

The Journal Of Physiology

Lerche, Holger H; Shah, Mala M; Beck, Heinz H; Noebels, Jeff J; Johnston, Dan D; Vincent, Angela A

Publication Date: 2013-02-15

Variant appearance in text: Kv7.2: A306T

PubMed Link: 23090947

Variant Present in the following documents:

• Main text

View BVdb publication page

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Crucial points within the pore as determinants of K⁺ channel conductance and gating.

Journal Of Molecular Biology

Shi, Ning N; Zeng, Weizhong W; Ye, Sheng S; Li, Yang Y; Jiang, Youxing Y

Publication Date: 2011-08-05

Variant appearance in text: KCNQ2: A306T

PubMed Link: 21554888

Variant Present in the following documents:

• Main text

View BVdb publication page

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Desensitization of chemical activation by auxiliary subunits: convergence of molecular determinants critical for augmenting KCNQ1 potassium channels.

The Journal Of Biological Chemistry

Gao, Zhaobing Z; Xiong, Qiaojie Q; Sun, Haiyan H; Li, Min M

Publication Date: 2008-08-15

Variant appearance in text: KCNQ2: A306T

PubMed Link: 18490447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.

The Journal Of Physiology

Singh, Nanda A NA; Otto, James F JF; Dahle, E Jill EJ; Pappas, Chris C; Leslie, Jonathan D JD; Vilaythong, Alex A; Noebels, Jeffrey L JL; White, H Steve HS; Wilcox, Karen S KS; Leppert, Mark F MF

Publication Date: 2008-07-15

Variant appearance in text: KCNQ2: A306T

PubMed Link: 18483067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combinatorial augmentation of voltage-gated KCNQ potassium channels by chemical openers.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Xiong, Qiaojie Q; Sun, Haiyan H; Zhang, Yangming Y; Nan, Fajun F; Li, Min M

Publication Date: 2008-02-26

Variant appearance in text: KCNQ2: A306T

PubMed Link: 18272489

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chung, Hee Jung HJ; Jan, Yuh Nung YN; Jan, Lily Y LY

Publication Date: 2006-06-06

Variant appearance in text: KCNQ2: A306T

PubMed Link: 16735477

Variant Present in the following documents:

• Main text

View BVdb publication page

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