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: SCN5A: 673C>T; Arg225Trp

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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Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Genes

Di Resta, Chiara C; Berg, Jan J; Villatore, Andrea A; Maia, Marianna M; Pili, Gianluca G; Fioravanti, Francesco F; Tomaiuolo, Rossella R; Sala, Simone S; Benedetti, Sara S; Peretto, Giovanni G

Publication Date: 2022-09-28

Variant appearance in text: SCN5A: R225W

PubMed Link: 36292641

Variant Present in the following documents:

• Main text
• genes-13-01755.pdf

View BVdb publication page

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Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.

Circulation. Genomic And Precision Medicine

Bourfiss, Mimount M; van Vugt, Marion M; Alasiri, Abdulrahman I AI; Ruijsink, Bram B; Setten, Jessica van JV; Schmidt, Amand F AF; Dooijes, Dennis D; Puyol-Antón, Esther E; Velthuis, Birgitta K BK; Tintelen, J Peter van JPV; Te Riele, Anneline S J M ASJM; Baas, Annette F AF; Asselbergs, Folkert W FW

Publication Date: 2022-10-20

Variant appearance in text: SCN5A: Arg225Trp; rs199473072

PubMed Link: 36264615

Variant Present in the following documents:

• hcg-15-e003704-s001.pdf

View BVdb publication page

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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: SCN5A: 673C>T; R225W

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Journal Of Clinical Medicine

Oliva, Antonio A; Grassi, Simone S; Pinchi, Vilma V; Cazzato, Francesca F; Coll, Mónica M; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Cesar, Sergi S; Iglesias, Anna A; Cruzalegui, José J; Hernández, Clara C; Fiol, Victoria V; Arbelo, Elena E; Díez-Escuté, Nuria N; Arena, Vincenzo V; Brugada, Josep J; Sarquella-Brugada, Georgia G; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2022-07-28

Variant appearance in text: SCN5A: 673C>T; Arg225Trp; rs199473072

PubMed Link: 35956023

Variant Present in the following documents:

• jcm-11-04406.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: 673C>T; Arg225Trp

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.

Cardiovascular Research

Campostrini, Giulia G; Kosmidis, Georgios G; Ward-van Oostwaard, Dorien D; Davis, Richard P RP; Yiangou, Loukia L; Ottaviani, Daniele D; Veerman, Christiaan C CC; Mei, Hailiang H; Orlova, Valeria V VV; Wilde, Arthur A M AAM; Bezzina, Connie R CR; Verkerk, Arie O AO; Mummery, Christine L CL; Bellin, Milena M

Publication Date: 2022-04-08

Variant appearance in text: SCN5A: 673C>T

PubMed Link: 35394010

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Non-Invasive Parameters to Identify Subjects at High Risk of Sudden Cardiac Death.

Journal Of Clinical Medicine

Corbo, Maria Delia MD; Vitale, Enrica E; Pesolo, Maurizio M; Casavecchia, Grazia G; Gravina, Matteo M; Pellegrino, Pierluigi P; Brunetti, Natale Daniele ND; Iacoviello, Massimo M

Publication Date: 2022-03-10

Variant appearance in text: SCN5A: R225W

PubMed Link: 35329848

Variant Present in the following documents:

• jcm-11-01519.pdf

View BVdb publication page

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Rare Genetic Variants Associated With Myocardial Fibrosis: Multi-Ethnic Study of Atherosclerosis.

Frontiers In Cardiovascular Medicine

Shabani, Mahsima M; Dutta, Diptavo D; Ambale-Venkatesh, Bharath B; Post, Wendy S WS; Taylor, Kent D KD; Rich, Stephen S SS; Wu, Colin O CO; Pereira, Naveen L NL; Shah, Sanjiv J SJ; Chatterjee, Nilanjan N; Rotter, Jerome I JI; Arking, Dan E DE; Lima, Joao A C JAC

Publication Date: 2022

Variant appearance in text: SCN5A: Arg225Trp

PubMed Link: 35265679

Variant Present in the following documents:

• Main text
• fcvm-09-804788.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: R225W

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: R225W

PubMed Link: 35163304

Variant Present in the following documents:

• ijms-23-01381.pdf

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: SCN5A: R225W; rs199473072

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Biventricular Myocardial Fibrosis and Sudden Death in Patients With Brugada Syndrome.

Journal Of The American College Of Cardiology

Miles, Chris C; Asimaki, Angeliki A; Ster, Irina Chis IC; Papadakis, Michael M; Gray, Belinda B; Westaby, Joseph J; Finocchiaro, Gherardo G; Bueno-Beti, Carlos C; Ensam, Bode B; Basu, Joyee J; Parry-Williams, Gemma G; MacLachlan, Hamish H; Edwards, Khari A KA; Johnson, David D; Tome, Maite M; Sharma, Sanjay S; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2021-10-12

Variant appearance in text: SCN5A: 673C>T; R225W

PubMed Link: 34620408

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: rs199473072

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Frontiers In Physiology

Tse, Gary G; Lee, Sharen S; Liu, Tong T; Yuen, Ho Chuen HC; Wong, Ian Chi Kei ICK; Mak, Chloe C; Mok, Ngai Shing NS; Wong, Wing Tak WT

Publication Date: 2020

Variant appearance in text: SCN5A: R225W

PubMed Link: 33071830

Variant Present in the following documents:

• fphys-11-574590.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: 673C>T; Arg225Trp

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 13
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 9
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 11
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 3
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report.

Frontiers In Cardiovascular Medicine

Nijak, Aleksandra A; Labro, Alain J AJ; De Wilde, Hans H; Dewals, Wendy W; Peigneur, Steve S; Tytgat, Jan J; Snyders, Dirk D; Sieliwonczyk, Ewa E; Simons, Eline E; Van Craenenbroeck, Emeline E; Schepers, Dorien D; Van Laer, Lut L; Saenen, Johan J; Loeys, Bart B; Alaerts, Maaike M

Publication Date: 2020

Variant appearance in text: Nav1.5: R225W

PubMed Link: 32850980

Variant Present in the following documents:

• fcvm-07-00117.pdf

View BVdb publication page

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Identification of Undetected Monogenic Cardiovascular Disorders.

Journal Of The American College Of Cardiology

Abdulrahim, Jawan W JW; Kwee, Lydia Coulter LC; Alenezi, Fawaz F; Sun, Albert Y AY; Baras, Aris A; Ajayi, Teminioluwa A TA; Henao, Ricardo R; Holley, Christopher L CL; McGarrah, Robert W RW; Daubert, James P JP; Truby, Lauren K LK; Vemulapalli, Sreekanth S; Wang, Andrew A; Khouri, Michel G MG; Shah, Svati H SH

Publication Date: 2020-08-18

Variant appearance in text: SCN5A: Arg225Trp

PubMed Link: 32792077

Variant Present in the following documents:

• Main text

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

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

,

Publication Date: 2020-09

Variant appearance in text: SCN5A: 673C>T; Arg225Trp

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Ethnic differences in genetic polymorphism associated with irritable bowel syndrome.

World Journal Of Gastroenterology

Xiao, Qi-Yun QY; Fang, Xiu-Cai XC; Li, Xiao-Qing XQ; Fei, Gui-Jun GJ

Publication Date: 2020-05-07

Variant appearance in text: SCN5A: R225W

PubMed Link: 32536774

Variant Present in the following documents:

• Main text
• WJG-26-2049.pdf

View BVdb publication page

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Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms.

Cardiovascular Research

Rivaud, Mathilde R MR; Delmar, Mario M; Remme, Carol Ann CA

Publication Date: 2020-07-15

Variant appearance in text: SCN5A: R225W

PubMed Link: 32251506

Variant Present in the following documents:

• cvaa082.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: SCN5A: R225W

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Structure of the Cardiac Sodium Channel.

Cell

Jiang, Daohua D; Shi, Hui H; Tonggu, Lige L; Gamal El-Din, Tamer M TM; Lenaeus, Michael J MJ; Zhao, Yan Y; Yoshioka, Craig C; Zheng, Ning N; Catterall, William A WA

Publication Date: 2020-01-09

Variant appearance in text: LQT3: R225W

PubMed Link: 31866066

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: SCN5A: R225W

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 673C>T; R225W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Beyond the One Gene-One Disease Paradigm: Complex Genetics and Pleiotropy in Inheritable Cardiac Disorders

Circulation

Cerrone, Marina M; Remme, Carol Ann CA; Tadros, Rafik R; Bezzina, Connie R CR; Delmar, Mario M

Publication Date: 2019-08-13

Variant appearance in text: SCN5A: R225W

PubMed Link: 31403841

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.

Channels (Austin, Tex.)

Nakajima, Tadashi T; Kaneko, Yoshiaki Y; Dharmawan, Tommy T; Kurabayashi, Masahiko M

Publication Date: 2019-12

Variant appearance in text: SCN5A: R225W

PubMed Link: 31357904

Variant Present in the following documents:

• Main text
• kchl-13-01-1649521.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: 673C>T; Arg225Trp; rs199473072

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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Protein structure aids predicting functional perturbation of missense variants in SCN5A and KCNQ1.

Computational And Structural Biotechnology Journal

Kroncke, Brett M BM; Mendenhall, Jeffrey J; Smith, Derek K DK; Sanders, Charles R CR; Capra, John A JA; George, Alfred L AL; Blume, Jeffrey D JD; Meiler, Jens J; Roden, Dan M DM

Publication Date: 2019

Variant appearance in text: SCN5A: R225W

PubMed Link: 30828412

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: R225W

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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SCN5A Variants: Association With Cardiac Disorders.

Frontiers In Physiology

Li, Wenjia W; Yin, Lei L; Shen, Cheng C; Hu, Kai K; Ge, Junbo J; Sun, Aijun A

Publication Date: 2018

Variant appearance in text: SCN5A: R225W

PubMed Link: 30364184

Variant Present in the following documents:

• Main text

View BVdb publication page

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A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Nav1.5 Gating Pores.

Frontiers In Cardiovascular Medicine

Moreau, Adrien A; Chahine, Mohamed M

Publication Date: 2018

Variant appearance in text: LQT3: R225W

PubMed Link: 30356750

Variant Present in the following documents:

• Main text

View BVdb publication page

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A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.

Scientific Reports

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Mercier, Aurélie A; Burger, Bettina B; Keller, Dagmar I DI; Chahine, Mohamed M

Publication Date: 2018-09-14

Variant appearance in text: SCN5A: R225W

PubMed Link: 30218094

Variant Present in the following documents:

• Main text

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: R225W

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.

Plos One

Liu, Jie J; Bayer, Jason D JD; Aschar-Sobbi, Roozbeh R; Wauchop, Marianne M; Spears, Danna D; Gollob, Michael M; Vigmond, Edward J EJ; Tsushima, Robert R; Backx, Peter H PH; Chauhan, Vijay S VS

Publication Date: 2018

Variant appearance in text: SCN5A: R225W

PubMed Link: 29791480

Variant Present in the following documents:

• pone.0197273.pdf

View BVdb publication page

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Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.

Biology

Coll, Monica M; Pérez-Serra, Alexandra A; Mates, Jesus J; Del Olmo, Bernat B; Puigmulé, Marta M; Fernandez-Falgueras, Anna A; Iglesias, Anna A; Picó, Ferran F; Lopez, Laura L; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2017-12-26

Variant appearance in text: LQT3: R225W

PubMed Link: 29278359

Variant Present in the following documents:

• biology-07-00003.pdf

View BVdb publication page

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Irritable bowel syndrome patients have SCN5A channelopathies that lead to decreased NaV1.5 current and mechanosensitivity.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Strege, Peter R PR; Mazzone, Amelia A; Bernard, Cheryl E CE; Neshatian, Leila L; Gibbons, Simon J SJ; Saito, Yuri A YA; Tester, David J DJ; Calvert, Melissa L ML; Mayer, Emeran A EA; Chang, Lin L; Ackerman, Michael J MJ; Beyder, Arthur A; Farrugia, Gianrico G

Publication Date: 2018-04-01

Variant appearance in text: SCN5A: R225W

PubMed Link: 29167113

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: SCN5A: R225W

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 10

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Modeling the human Nav1.5 sodium channel: structural and mechanistic insights of ion permeation and drug blockade.

Drug Design, Development And Therapy

Ahmed, Marawan M; Jalily Hasani, Horia H; Ganesan, Aravindhan A; Houghton, Michael M; Barakat, Khaled K

Publication Date: 2017

Variant appearance in text: LQT3: R225W

PubMed Link: 28831242

Variant Present in the following documents:

• Main text

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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: R225W

PubMed Link: 28739862

Variant Present in the following documents:

• Main text

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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: 673C>T; Arg225Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes.

Clinical Medicine Insights. Cardiology

Roston, Thomas M TM; Cunningham, Taylor T; Lehman, Anna A; Laksman, Zachary W ZW; Krahn, Andrew D AD; Sanatani, Shubhayan S

Publication Date: 2017

Variant appearance in text: SCN5A: R225W

PubMed Link: 28469493

Variant Present in the following documents:

• f_SupplementaryMaterial_698134_8633.pdf
• 10.1177_1179546817698134.pdf

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Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Journal Of The American College Of Cardiology

Lahrouchi, Najim N; Raju, Hariharan H; Lodder, Elisabeth M EM; Papatheodorou, Efstathios E; Ware, James S JS; Papadakis, Michael M; Tadros, Rafik R; Cole, Della D; Skinner, Jonathan R JR; Crawford, Jackie J; Love, Donald R DR; Pua, Chee J CJ; Soh, Bee Y BY; Bhalshankar, Jaydutt D JD; Govind, Risha R; Tfelt-Hansen, Jacob J; Winkel, Bo G BG; van der Werf, Christian C; Wijeyeratne, Yanushi D YD; Mellor, Greg G; Till, Jan J; Cohen, Marta C MC; Tome-Esteban, Maria M; Sharma, Sanjay S; Wilde, Arthur A M AAM; Cook, Stuart A SA; Bezzina, Connie R CR; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2017-05-02

Variant appearance in text: SCN5A: R225W

PubMed Link: 28449774

Variant Present in the following documents:

• Main text

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: SCN5A: 673C>T; Arg225Trp

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: SCN5A: R225W

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

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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: R225W

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Disease Markers

Thongnak, Chuphong C; Limprasert, Pornprot P; Tangviriyapaiboon, Duangkamol D; Silvilairat, Suchaya S; Puangpetch, Apichaya A; Pasomsub, Ekawat E; Sukasem, Chonlaphat C; Chantratita, Wasun W

Publication Date: 2016

Variant appearance in text: SCN5A: R225W

PubMed Link: 28018021

Variant Present in the following documents:

• Main text
• DM2016-3684965.pdf

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: rs199473072

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table7.xlsx, sheet 1

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Cardiac Sodium Channel Mutations: Why so Many Phenotypes?

Current Topics In Membranes

Liu, M M; Yang, K-C KC; Dudley, S C SC

Publication Date: 2016

Variant appearance in text: SCN5A: R225W

PubMed Link: 27586294

Variant Present in the following documents:

• Main text

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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: 673C>T; R225W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology

Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F

Publication Date: 2015

Variant appearance in text: Nav1.5: R225W

PubMed Link: 26834636

Variant Present in the following documents:

• Main text

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Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.

Frontiers In Pharmacology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Boutjdir, Mohamed M; Chahine, Mohamed M

Publication Date: 2015

Variant appearance in text: Nav1.5: R225W

PubMed Link: 26733869

Variant Present in the following documents:

• Main text
• fphar-06-00301.pdf

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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: LQT3: R225W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

Gene

Veerman, Christiaan C CC; Wilde, Arthur A M AA; Lodder, Elisabeth M EM

Publication Date: 2015-12-01

Variant appearance in text: LQT3: R225W

PubMed Link: 26361848

Variant Present in the following documents:

• Main text

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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: R225W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.

The Journal Of General Physiology

Moreau, Adrien A; Gosselin-Badaroudine, Pascal P; Delemotte, Lucie L; Klein, Michael L ML; Chahine, Mohamed M

Publication Date: 2015-02

Variant appearance in text: Nav1.5: R225W

PubMed Link: 25624448

Variant Present in the following documents:

• Main text
• JGP_201411304.pdf
• supp_jgp.201411304_JGP_201411304_sm.pdf

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Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.

Scientific Reports

Tan, Zhi-Ping ZP; Xie, Li L; Deng, Yao Y; Chen, Jin-Lan JL; Zhang, Wei-Zhi WZ; Wang, Jian J; Yang, Jin-Fu JF; Yang, Yi-Feng YF

Publication Date: 2014-07-10

Variant appearance in text: SCN5A: R225W

PubMed Link: 25010007

Variant Present in the following documents:

• Main text

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Cardiac sodium channel mutations: why so many phenotypes?

Nature Reviews. Cardiology

Liu, Man M; Yang, Kai-Chien KC; Dudley, Samuel C SC

Publication Date: 2014-10

Variant appearance in text: SCN5A: R225W

PubMed Link: 24958080

Variant Present in the following documents:

• Main text

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Arrhythmic substrate, slowed propagation and increased dispersion in conduction direction in the right ventricular outflow tract of murine Scn5a+/- hearts.

Acta Physiologica (Oxford, England)

Zhang, Y Y; Guzadhur, L L; Jeevaratnam, K K; Salvage, S C SC; Matthews, G D K GD; Lammers, W J WJ; Lei, M M; Huang, C L-H CL; Fraser, J A JA

Publication Date: 2014-08

Variant appearance in text: Nav1.5: R225W

PubMed Link: 24913289

Variant Present in the following documents:

• apha0211-0559.pdf

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Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

Heart Rhythm

Beckermann, Thomas M TM; McLeod, Karen K; Murday, Victoria V; Potet, Franck F; George, Alfred L AL

Publication Date: 2014-08

Variant appearance in text: SCN5A: R225W

PubMed Link: 24815523

Variant Present in the following documents:

• Main text

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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics

Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2014-04

Variant appearance in text: SCN5A: R225W

PubMed Link: 24573164

Variant Present in the following documents:

• Main text

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A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?

Disease Markers

Shen, Cheng C; Xu, Lei L; Yang, Zhiyin Z; Zou, Yunzeng Y; Hu, Kai K; Fan, Zheng Z; Ge, Junbo J; Sun, Aijun A

Publication Date: 2013

Variant appearance in text: SCN5A: R225W

PubMed Link: 24227891

Variant Present in the following documents:

• Main text
• DM35-05-659528.pdf

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Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology

Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN

Publication Date: 2012-09

Variant appearance in text: SCN5A: R225W

PubMed Link: 22961543

Variant Present in the following documents:

• aws225.pdf

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