Publications:

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Tetrodotoxin Decreases the Contractility of Mesenteric Arteries, Revealing the Contribution of Voltage-Gated Na+ Channels in Vascular Tone Regulation.

Marine Drugs

Park, Joohee J; Proux, Coralyne C; Ehanno, William W; Réthoré, Léa L; Vessières, Emilie E; Bourreau, Jennifer J; Favre, Julie J; Kauffenstein, Gilles G; Mattei, César C; Tricoire-Leignel, Hélène H; Henrion, Daniel D; Legendre, Claire C; Legros, Christian C

Publication Date: 2023-03-22

Variant appearance in text: SCN5A: G615E

PubMed Link: 36976245

Variant Present in the following documents:

• marinedrugs-21-00196.pdf

View BVdb publication page

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Mechanosensing in the Physiology and Pathology of the Gastrointestinal Tract.

International Journal Of Molecular Sciences

Kola, Job Baffin JB; Docsa, Tibor T; Uray, Karen K

Publication Date: 2022-12-22

Variant appearance in text: SCN5A: G615E

PubMed Link: 36613619

Variant Present in the following documents:

• Main text
• ijms-24-00177.pdf

View BVdb publication page

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The role of mechanosensitive ion channels in the gastrointestinal tract.

Frontiers In Physiology

Yang, Haoyu H; Hou, Chaofeng C; Xiao, Weidong W; Qiu, Yuan Y

Publication Date: 2022

Variant appearance in text: SCN5A: G615E

PubMed Link: 36060694

Variant Present in the following documents:

• Main text
• fphys-13-904203.pdf

View BVdb publication page

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: SCN5A: 1844G>A; Gly615Glu

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Capsaicin as an amphipathic modulator of NaV1.5 mechanosensitivity.

Channels (Austin, Tex.)

Cowan, Luke M LM; Strege, Peter R PR; Rusinova, Radda R; Andersen, Olaf S OS; Farrugia, Gianrico G; Beyder, Arthur A

Publication Date: 2022-12

Variant appearance in text: SCN5A: G615E

PubMed Link: 35412435

Variant Present in the following documents:

• KCHL_16_2026015.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SCN5A: G615E; rs12720452

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 13
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: SCN5A: 1844G>A; Gly615Glu; rs12720452

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: SCN5A: 1844G>A; G615E

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

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

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: SCN5A: 1844G>A; Gly615Glu

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.

Human Mutation

Hawley, Megan H MH; Almontashiri, Naif N; Biesecker, Leslie G LG; Berger, Natalie N; Chung, Wendy K WK; Garcia, John J; Grebe, Theresa A TA; Kelly, Melissa A MA; Lebo, Matthew S MS; Macaya, Daniela D; Mei, Hui H; Platt, Julia J; Richard, Gabi G; Ryan, Ashley A; Thomson, Kate L KL; Vatta, Matteo M; Walsh, Roddy R; Ware, James S JS; Wheeler, Matthew M; Zouk, Hana H; Mason-Suares, Heather H; Funke, Birgit B

Publication Date: 2020-09

Variant appearance in text: SCN5A: 1844G>A; Gly615Glu

PubMed Link: 32516855

Variant Present in the following documents:

• Main text

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: SCN5A: G615E

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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SCN5A mutation G615E results in NaV1.5 voltage-gated sodium channels with normal voltage-dependent function yet loss of mechanosensitivity.

Channels (Austin, Tex.)

Strege, Peter R PR; Mercado-Perez, Arnaldo A; Mazzone, Amelia A; Saito, Yuri A YA; Bernard, Cheryl E CE; Farrugia, Gianrico G; Beyder, Arthur A

Publication Date: 2019-12

Variant appearance in text:

PubMed Link: 31262209

Variant Present in the following documents:

• Main text
• kchl-13-01-1632670.pdf

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: SCN5A: 1844G>A; Gly615Glu; rs12720452

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A novel gain-of-function Nav1.7 mutation in a carbamazepine-responsive patient with adult-onset painful peripheral neuropathy.

Molecular Pain

Adi, Talia T; Estacion, Mark M; Schulman, Betsy R BR; Vernino, Steven S; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG

Publication Date: 2018

Variant appearance in text: SCN5A: G615E

PubMed Link: 30392441

Variant Present in the following documents:

• Main text
• 10.1177_1744806918815007.pdf

View BVdb publication page

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Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Journal Of Korean Medical Science

Son, Min-Jeong MJ; Kim, Min-Kyoung MK; Yang, Kyung-Moo KM; Choi, Byung-Ha BH; Lee, Bong Woo BW; Yoo, Seong Ho SH

Publication Date: 2018-08-06

Variant appearance in text: SCN5A: G615E

PubMed Link: 30079003

Variant Present in the following documents:

• Main text
• jkms-33-e200.pdf

View BVdb publication page

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Dysfunctional Nav1.5 channels due to SCN5A mutations.

Experimental Biology And Medicine (Maywood, N.J.)

Han, Dan D; Tan, Hui H; Sun, Chaofeng C; Li, Guoliang G

Publication Date: 2018-06

Variant appearance in text: LQT3: G615E

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating the mutational load for cardiovascular diseases in Pakistani population.

Plos One

Shakeel, Muhammad M; Irfan, Muhammad M; Khan, Ishtiaq Ahmad IA

Publication Date: 2018

Variant appearance in text: rs12720452

PubMed Link: 29420653

Variant Present in the following documents:

• pone.0192446.s009.xlsx, sheet 2

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: SCN5A: 1844G>A; Gly615Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.

Heart Rhythm

Anderson, Heather N HN; Bos, J Martijn JM; Kapplinger, Jamie D JD; Meskill, Jana M JM; Ye, Dan D; Ackerman, Michael J MJ

Publication Date: 2017-08

Variant appearance in text: LQT3: G615E

PubMed Link: 28412158

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: G615E

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: SCN5A: 1844G>A; G615E; rs12720452

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

View BVdb publication page

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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

Genome Research

Methner, D Nicole R DN; Scherer, Steven E SE; Welch, Katherine K; Walkiewicz, Magdalena M; Eng, Christine M CM; Belmont, John W JW; Powell, Mark C MC; Korchina, Viktoriya V; Doddapaneni, Harsha Vardhan HV; Muzny, Donna M DM; Gibbs, Richard A RA; Wolf, Dwayne A DA; Sanchez, Luis A LA; Kahn, Roger R

Publication Date: 2016-09

Variant appearance in text: SCN5A: G615E

PubMed Link: 27435932

Variant Present in the following documents:

• 1170.pdf

View BVdb publication page

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Practice viewpoints: AICD, who and when?

Heart Asia

Sung, R J RJ; Chan, N-Y NY

Publication Date: 2009

Variant appearance in text: SCN5A: G615E

PubMed Link: 27325927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SCN5A: G615E; rs12720452

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The UK10K project identifies rare variants in health and disease.

Nature

, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N

Publication Date: 2015-10-01

Variant appearance in text: SCN5A: G615E; rs12720452

PubMed Link: 26367797

Variant Present in the following documents:

• 41586_2015_BFnature14962_MOESM15_ESM.xlsx, sheet 16

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: SCN5A: G615E

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SCN5A: G615E; rs12720452

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Harvard Personal Genome Project: lessons from participatory public research.

Genome Medicine

Ball, Madeleine P MP; Bobe, Jason R JR; Chou, Michael F MF; Clegg, Tom T; Estep, Preston W PW; Lunshof, Jeantine E JE; Vandewege, Ward W; Zaranek, Alexander A; Church, George M GM

Publication Date: 2014-02-28

Variant appearance in text: SCN5A: G615E

PubMed Link: 24713084

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.

Gastroenterology

Beyder, Arthur A; Mazzone, Amelia A; Strege, Peter R PR; Tester, David J DJ; Saito, Yuri A YA; Bernard, Cheryl E CE; Enders, Felicity T FT; Ek, Weronica E WE; Schmidt, Peter T PT; Dlugosz, Aldona A; Lindberg, Greger G; Karling, Pontus P; Ohlsson, Bodil B; Gazouli, Maria M; Nardone, Gerardo G; Cuomo, Rosario R; Usai-Satta, Paolo P; Galeazzi, Francesca F; Neri, Matteo M; Portincasa, Piero P; Bellini, Massimo M; Barbara, Giovanni G; Camilleri, Michael M; Locke, G Richard GR; Talley, Nicholas J NJ; D'Amato, Mauro M; Ackerman, Michael J MJ; Farrugia, Gianrico G

Publication Date: 2014-06

Variant appearance in text: SCN5A: G615E

PubMed Link: 24613995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes.

The Pharmacogenomics Journal

Ramirez, A H AH; Shaffer, C M CM; Delaney, J T JT; Sexton, D P DP; Levy, S E SE; Rieder, M J MJ; Nickerson, D A DA; George, A L AL; Roden, D M DM

Publication Date: 2013-08

Variant appearance in text: SCN5A: Gly615Glu

PubMed Link: 22584458

Variant Present in the following documents:

• Main text

View BVdb publication page

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High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

European Journal Of Human Genetics : Ejhg

Refsgaard, Lena L; Holst, Anders G AG; Sadjadieh, Golnaz G; Haunsø, Stig S; Nielsen, Jonas B JB; Olesen, Morten S MS

Publication Date: 2012-08

Variant appearance in text: SCN5A: G615E

PubMed Link: 22378279

Variant Present in the following documents:

• Main text
• ejhg201223a.pdf

View BVdb publication page

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A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Heart Rhythm

Shinlapawittayatorn, Krekwit K; Du, Xi X XX; Liu, Haiyan H; Ficker, Eckhard E; Kaufman, Elizabeth S ES; Deschênes, Isabelle I

Publication Date: 2011-03

Variant appearance in text: LQT3: G615E

PubMed Link: 21109022

Variant Present in the following documents:

• Main text

View BVdb publication page

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Drug-induced torsades de pointes and implications for drug development.

Journal Of Cardiovascular Electrophysiology

Fenichel, Robert R RR; Malik, Marek M; Antzelevitch, Charles C; Sanguinetti, Michael M; Roden, Dan M DM; Priori, Silvia G SG; Ruskin, Jeremy N JN; Lipicky, Raymond J RJ; Cantilena, Louis R LR; ,

Publication Date: 2004-04

Variant appearance in text: SCN5A: G615E

PubMed Link: 15090000

Variant Present in the following documents:

• Main text

View BVdb publication page

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