Publications:

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Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na 1.5).

Peerj

Lopes-Marques, Monica M; Silva, Raquel R; Serrano, Catarina C; Gomes, Verónica V; Cardoso, Ana A; Prata, Maria João MJ; Amorim, Antonio A; Azevedo, Luisa L

Publication Date: 2022

Variant appearance in text: SCN5A: Glu161Lys; rs199473062

PubMed Link: 35996667

Variant Present in the following documents:

• Main text
• peerj-10-13913.pdf

View BVdb publication page

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Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

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

Huang, Gaoxingyu G; Wu, Qiurong Q; Li, Zhangqiang Z; Jin, Xueqin X; Huang, Xiaoshuang X; Wu, Tong T; Pan, Xiaojing X; Yan, Nieng N

Publication Date: 2022-08-16

Variant appearance in text: Nav1.5: E161K

PubMed Link: 35878056

Variant Present in the following documents:

• pnas.202209164.pdf

View BVdb publication page

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: E161K

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences

Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D

Publication Date: 2022-01-26

Variant appearance in text: SCN5A: E161K

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN5A: E161K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Intersegment Contacts of Potentially Damaging Variants of Cardiac Sodium Channel.

Frontiers In Pharmacology

Korkosh, Vyacheslav S VS; Zaytseva, Anastasia K AK; Kostareva, Anna A AA; Zhorov, Boris S BS

Publication Date: 2021

Variant appearance in text: LQT3: E161K

PubMed Link: 34803699

Variant Present in the following documents:

• fphar-12-756415.pdf

View BVdb publication page

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Genetic Complexity of Sinoatrial Node Dysfunction.

Frontiers In Genetics

Wallace, Michael J MJ; El Refaey, Mona M; Mesirca, Pietro P; Hund, Thomas J TJ; Mangoni, Matteo E ME; Mohler, Peter J PJ

Publication Date: 2021

Variant appearance in text: SCN5A: E161K

PubMed Link: 33868385

Variant Present in the following documents:

• Main text
• fgene-12-654925.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: SCN5A: 481G>A; E161K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families.

Circulation. Genomic And Precision Medicine

Wijeyeratne, Yanushi D YD; Tanck, Michael W MW; Mizusawa, Yuka Y; Batchvarov, Velislav V; Barc, Julien J; Crotti, Lia L; Bos, J Martijn JM; Tester, David J DJ; Muir, Alison A; Veltmann, Christian C; Ohno, Seiko S; Page, Stephen P SP; Galvin, Joseph J; Tadros, Rafik R; Muggenthaler, Martina M; Raju, Hariharan H; Denjoy, Isabelle I; Schott, Jean-Jacques JJ; Gourraud, Jean-Baptiste JB; Skoric-Milosavljevic, Doris D; Nannenberg, Eline A EA; Redon, Richard R; Papadakis, Michael M; Kyndt, Florence F; Dagradi, Federica F; Castelletti, Silvia S; Torchio, Margherita M; Meitinger, Thomas T; Lichtner, Peter P; Ishikawa, Taisuke T; Wilde, Arthur A M AAM; Takahashi, Kazuhiro K; Sharma, Sanjay S; Roden, Dan M DM; Borggrefe, Martin M MM; McKeown, Pascal P PP; Shimizu, Wataru W; Horie, Minoru M; Makita, Naomasa N; Aiba, Takeshi T; Ackerman, Michael J MJ; Schwartz, Peter J PJ; Probst, Vincent V; Bezzina, Connie R CR; Behr, Elijah R ER

Publication Date: 2020-12

Variant appearance in text: SCN5A: 481G>A; E161K

PubMed Link: 33164571

Variant Present in the following documents:

• hcg-13-e002911-s001.pdf

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: 481G>A; Glu161Lys

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: SCN5A: 481G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: SCN5A: 481G>A; Glu161Lys; rs199473062

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology

Groome, James R JR; Bayless-Edwards, Landon L

Publication Date: 2020

Variant appearance in text: SCN5A: E161K

PubMed Link: 32180723

Variant Present in the following documents:

• Main text
• fphar-11-00160.pdf

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: SCN5A: 481G>A; Glu161Lys

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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: 481G>A; Glu161Lys; rs199473062

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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Cellular Mechanisms of Sinus Node Dysfunction in Carriers of the SCN5A-E161K Mutation and Role of the H558R Polymorphism.

Frontiers In Physiology

Wilders, Ronald R

Publication Date: 2018

Variant appearance in text: LQT3: 481G>A

PubMed Link: 30618807

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanistic insight into spontaneous transition from cellular alternans to arrhythmia-A simulation study.

Plos Computational Biology

Wang, Wei W; Zhang, Shanzhuo S; Ni, Haibo H; Garratt, Clifford J CJ; Boyett, Mark R MR; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018-11

Variant appearance in text: SCN5A: E161K

PubMed Link: 30500818

Variant Present in the following documents:

• pcbi.1006594.pdf

View BVdb publication page

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: SCN5A: E161K; rs199473062

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: E161K

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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Brugada syndrome and sinus node dysfunction.

Journal Of Arrhythmia

Hayashi, Hidemori H; Sumiyoshi, Masataka M; Nakazato, Yuji Y; Daida, Hiroyuki H

Publication Date: 2018-06

Variant appearance in text: SCN5A: E161K

PubMed Link: 29951135

Variant Present in the following documents:

• JOA3-34-216.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: SCN5A: E161K

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sinus Bradycardia in Carriers of the SCN5A-1795insD Mutation: Unraveling the Mechanism through Computer Simulations.

International Journal Of Molecular Sciences

Wilders, Ronald R

Publication Date: 2018-02-23

Variant appearance in text: SCN5A: E161K

PubMed Link: 29473904

Variant Present in the following documents:

• Main text
• ijms-19-00634.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199473062

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.

Journal Of The American Heart Association

Veerman, Christiaan C CC; Mengarelli, Isabella I; Lodder, Elisabeth M EM; Kosmidis, Georgios G; Bellin, Milena M; Zhang, Miao M; Dittmann, Sven S; Guan, Kaomei K; Wilde, Arthur A M AAM; Schulze-Bahr, Eric E; Greber, Boris B; Bezzina, Connie R CR; Verkerk, Arie O AO

Publication Date: 2017-07-24

Variant appearance in text: SCN5A: E161K

PubMed Link: 28739862

Variant Present in the following documents:

• JAH3-6-e005135.pdf

View BVdb publication page

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Computational analysis of the human sinus node action potential: model development and effects of mutations.

The Journal Of Physiology

Fabbri, Alan A; Fantini, Matteo M; Wilders, Ronald R; Severi, Stefano S

Publication Date: 2017-04-01

Variant appearance in text: SCN5A: E161K

PubMed Link: 28185290

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: Nav1.5: E161K

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

View BVdb publication page

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Murine Electrophysiological Models of Cardiac Arrhythmogenesis.

Physiological Reviews

Huang, Christopher L-H CL

Publication Date: 2017-01

Variant appearance in text: SCN5A: E161K

PubMed Link: 27974512

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: SCN5A: 481G>A; E161K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.

Journal Of The American Heart Association

Veltmann, Christian C; Barajas-Martinez, Hector H; Wolpert, Christian C; Borggrefe, Martin M; Schimpf, Rainer R; Pfeiffer, Ryan R; Cáceres, Gabriel G; Burashnikov, Elena E; Antzelevitch, Charles C; Hu, Dan D

Publication Date: 2016-07-05

Variant appearance in text: SCN5A: E161K

PubMed Link: 27381756

Variant Present in the following documents:

• Main text
• JAH3-5-e003379.pdf

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: E161K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: SCN5A: 481G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: E161K

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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The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Journal Of Interventional Cardiac Electrophysiology : An International Journal Of Arrhythmias And Pacing

Milanesi, Raffaella R; Bucchi, Annalisa A; Baruscotti, Mirko M

Publication Date: 2015-08

Variant appearance in text: SCN5A: E161K

PubMed Link: 25863800

Variant Present in the following documents:

• Main text
• 10840_2015_Article_9998.pdf

View BVdb publication page

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Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.

Indian Pacing And Electrophysiology Journal

Robyns, T T; Nuyens, D D; Van Casteren, L L; Corveleyn, A A; De Ravel, T T; Heidbuchel, H H; Willems, R R

Publication Date: 2014-05

Variant appearance in text: SCN5A: E161K

PubMed Link: 24948852

Variant Present in the following documents:

• ipej140133-00.pdf

View BVdb publication page

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: SCN5A: E161K

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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Isoprenaline: a potential contributor in sick sinus syndrome--insights from a mathematical model of the rabbit sinoatrial node.

Thescientificworldjournal

Li, Xiang X; Zhang, Ji-qian JQ; Shuai, Jian-wei JW

Publication Date: 2014

Variant appearance in text: SCN5A: E161K

PubMed Link: 24578642

Variant Present in the following documents:

• TSWJ2014-540496.pdf

View BVdb publication page

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Cardiac ion channelopathies and the sudden infant death syndrome.

Isrn Cardiology

Wilders, Ronald R

Publication Date: 2012

Variant appearance in text: SCN5A: E161K

PubMed Link: 23304551

Variant Present in the following documents:

• Main text

View BVdb publication page

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Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction.

Circulation. Arrhythmia And Electrophysiology

Xi, Yutao Y; Ai, Tomohiko T; De Lange, Enno E; Li, Zhaohui Z; Wu, Geru G; Brunelli, Luca L; Kyle, W Buck WB; Turker, Isik I; Cheng, Jie J; Ackerman, Michael J MJ; Kimura, Akinori A; Weiss, James N JN; Qu, Zhilin Z; Kim, Jeffrey J JJ; Faulkner, Georgine G; Vatta, Matteo M

Publication Date: 2012-10

Variant appearance in text: SCN5A: E161K

PubMed Link: 22929165

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility.

Plos One

van Hoorn, Frans F; Campian, Maria E ME; Spijkerboer, Anje A; Blom, Marieke T MT; Planken, R Nils RN; van Rossum, Albert C AC; de Bakker, Jacques M T JM; Wilde, Arthur A M AA; Groenink, Maarten M; Tan, Hanno L HL

Publication Date: 2012

Variant appearance in text: SCN5A: E161K

PubMed Link: 22876298

Variant Present in the following documents:

• pone.0042037.pdf

View BVdb publication page

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Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models.

Frontiers In Physiology

Huang, Christopher L-H CL; Lei, Lily L; Matthews, Gareth D K GD; Zhang, Yanmin Y; Lei, Ming M

Publication Date: 2012

Variant appearance in text: Nav1.5: E161K

PubMed Link: 22783200

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.

Plos One

Walzik, Stefan S; Schroeter, Annett A; Benndorf, Klaus K; Zimmer, Thomas T

Publication Date: 2011-04-28

Variant appearance in text: SCN5A: E161K

PubMed Link: 21552533

Variant Present in the following documents:

• pone.0019188.pdf

View BVdb publication page

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The cardiac conduction system.

Circulation

Park, David S DS; Fishman, Glenn I GI

Publication Date: 2011-03-01

Variant appearance in text: SCN5A: E161K

PubMed Link: 21357845

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.

Plos One

Gui, Junhong J; Wang, Tao T; Jones, Richard P O RP; Trump, Dorothy D; Zimmer, Thomas T; Lei, Ming M

Publication Date: 2010-06-07

Variant appearance in text: SCN5A: E161K

PubMed Link: 20539757

Variant Present in the following documents:

• Main text
• pone.0010985.pdf

View BVdb publication page

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Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.

Circulation Research

Butters, Timothy D TD; Aslanidi, Oleg V OV; Inada, Shin S; Boyett, Mark R MR; Hancox, Jules C JC; Lei, Ming M; Zhang, Henggui H

Publication Date: 2010-07-09

Variant appearance in text: SCN5A: E161K

PubMed Link: 20448214

Variant Present in the following documents:

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Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates.

The Canadian Journal Of Cardiology

Subbiah, Rajesh N RN; Gollob, Michael H MH; Gula, Lorne J LJ; Davies, Robert W RW; Leong-Sit, Peter P; Skanes, Allan C AC; Yee, Raymond R; Klein, George J GJ; Krahn, Andrew D AD

Publication Date: 2010-04

Variant appearance in text: SCN5A: Glu161Lys

PubMed Link: 20386770

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The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium.

Basic Research In Cardiology

Remme, C A CA; Verkerk, A O AO; Hoogaars, W M H WM; Aanhaanen, W T J WT; Scicluna, B P BP; Annink, C C; van den Hoff, M J B MJ; Wilde, A A M AA; van Veen, T A B TA; Veldkamp, M W MW; de Bakker, J M T JM; Christoffels, V M VM; Bezzina, C R CR

Publication Date: 2009-09

Variant appearance in text: SCN5A: E161K

PubMed Link: 19255801

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Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

Acta Physiologica (Oxford, England)

Zhang, Y Y; Wang, T T; Ma, A A; Zhou, X X; Gui, J J; Wan, H H; Shi, R R; Huang, C C; Grace, A A AA; Huang, C L-H CL; Trump, D D; Zhang, H H; Zimmer, T T; Lei, M M

Publication Date: 2008-12

Variant appearance in text: LQT3: E161K

PubMed Link: 18616619

Variant Present in the following documents:

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• aps0194-0311.pdf

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A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

Cardiovascular Research

Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Medeiros-Domingo, Argelia A; Nava, Santiago S; Tester, David J DJ; Valdivia, Carmen R CR; Tusié-Luna, Teresa T; Ackerman, Michael J MJ; Makielski, Jonathan C JC

Publication Date: 2007-12-01

Variant appearance in text: ICCD: E161K

PubMed Link: 17897635

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A sodium channel pore mutation causing Brugada syndrome.

Heart Rhythm

Pfahnl, Arnold E AE; Viswanathan, Prakash C PC; Weiss, Raul R; Shang, Lijuan L LL; Sanyal, Shamarendra S; Shusterman, Vladimir V; Kornblit, Cari C; London, Barry B; Dudley, Samuel C SC

Publication Date: 2007-01

Variant appearance in text: LQT3: E161K

PubMed Link: 17198989

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