Publications:

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HiPSC-derived cardiomyocyte to model Brugada syndrome: both asymptomatic and symptomatic mutation carriers reveal increased arrhythmogenicity.

Bmc Cardiovascular Disorders

Penttinen, Kirsi K; Prajapati, Chandra C; Shah, Disheet D; Rajan, Dhanesh Kattipparambil DK; Cherian, Reeja Maria RM; Swan, Heikki H; Aalto-Setälä, Katriina K

Publication Date: 2023-04-25

Variant appearance in text: SCN5A: R367H

PubMed Link: 37098502

Variant Present in the following documents:

• Main text
• 12872_2023_Article_3234.pdf

View BVdb publication page

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Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

International Journal Of Molecular Sciences

Melgari, Dario D; Calamaio, Serena S; Frosio, Anthony A; Prevostini, Rachele R; Anastasia, Luigi L; Pappone, Carlo C; Rivolta, Ilaria I

Publication Date: 2023-04-03

Variant appearance in text: SCN5A: 1100G>A

PubMed Link: 37047659

Variant Present in the following documents:

• Main text
• ijms-24-06687.pdf

View BVdb publication page

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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: 1100G>A; Arg367His

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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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: R367H

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Cells

Iop, Laura L; Iliceto, Sabino S; Civieri, Giovanni G; Tona, Francesco F

Publication Date: 2021-11-15

Variant appearance in text: Nav1.5: R367H

PubMed Link: 34831398

Variant Present in the following documents:

• Main text
• cells-10-03175.pdf

View BVdb publication page

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A Fifteen-Gene Classifier to Predict Neoadjuvant Chemotherapy Responses in Patients with Stage IB to IIB Squamous Cervical Cancer.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Tian, Xun X; Wang, Xin X; Cui, Zifeng Z; Liu, Jia J; Huang, Xiaoyuan X; Shi, Caixia C; Zhang, Min M; Liu, Ting T; Du, Xiaofang X; Li, Rui R; Huang, Lei L; Gong, Danni D; Tian, Rui R; Cao, Chen C; Jin, Ping P; Zeng, Zhen Z; Pan, Guangxin G; Xia, Meng M; Zhang, Hongfeng H; Luo, Bo B; Xie, Yonghui Y; Li, Xiaoming X; Li, Tianye T; Wu, Jun J; Zhang, Qinghua Q; Chen, Gang G; Hu, Zheng Z

Publication Date: 2021-05

Variant appearance in text: SCN5A: R367H

PubMed Link: 34026427

Variant Present in the following documents:

• ADVS-8-2001978-s004.xlsx, sheet 4

View BVdb publication page

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iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

International Journal Of Molecular Sciences

Nijak, Aleksandra A; Saenen, Johan J; Labro, Alain J AJ; Schepers, Dorien D; Loeys, Bart L BL; Alaerts, Maaike M

Publication Date: 2021-03-10

Variant appearance in text: SCN5A: 1100G>A

PubMed Link: 33802229

Variant Present in the following documents:

• Main text
• ijms-22-02825.pdf

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: 1100G>A; R367H

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: 1100G>A; Arg367His

PubMed Link: 32893267

Variant Present in the following documents:

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

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: 1100G>A; Arg367His; rs28937318

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

European Cardiology

Nakao, Shu S; Ihara, Dai D; Hasegawa, Koji K; Kawamura, Teruhisa T

Publication Date: 2020-02

Variant appearance in text: SCN5A: R367H

PubMed Link: 32180835

Variant Present in the following documents:

• Main text
• ecr-15-e02.pdf

View BVdb publication page

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Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)

van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2020-02

Variant appearance in text: LQT3: R367H

PubMed Link: 31664757

Variant Present in the following documents:

• STEM-38-174-s001.pdf

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: 1100G>A; R367H

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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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: 1100G>A; Arg367His

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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Experimental Models of Brugada syndrome.

International Journal Of Molecular Sciences

Sendfeld, Franziska F; Selga, Elisabet E; Scornik, Fabiana S FS; Pérez, Guillermo J GJ; Mills, Nicholas L NL; Brugada, Ramon R

Publication Date: 2019-04-29

Variant appearance in text: SCN5A: R367H

PubMed Link: 31032819

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: SCN5A: 1100G>A; Arg367His

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.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: R367H

PubMed Link: 30364184

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: R367H

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.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: R367H

PubMed Link: 30079003

Variant Present in the following documents:

• Main text

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: R367H

PubMed Link: 29951135

Variant Present in the following documents:

• Main text
• 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: R367H

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

View BVdb publication page

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SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Circulation. Genomic And Precision Medicine

Kroncke, Brett M BM; Glazer, Andrew M AM; Smith, Derek K DK; Blume, Jeffrey D JD; Roden, Dan M DM

Publication Date: 2018-05

Variant appearance in text: SCN5A: R367H

PubMed Link: 29728395

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype relationship and risk stratification in loss-of-function SCN5A mutation carriers.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Robyns, Tomas T; Nuyens, Dieter D; Vandenberk, Bert B; Kuiperi, Cuno C; Corveleyn, Anniek A; Breckpot, Jeroen J; Garweg, Christophe C; Ector, Joris J; Willems, Rik R

Publication Date: 2018-09

Variant appearance in text: SCN5A: 1100G>A; Arg367His

PubMed Link: 29709101

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma.

Journal Of The American Heart Association

Zheng, Jingjing J; Zheng, Da D; Su, Terry T; Cheng, Jianding J

Publication Date: 2018-03-03

Variant appearance in text: SCN5A: R367H

PubMed Link: 29502107

Variant Present in the following documents:

• Main text
• JAH3-7-e007837.pdf
• JAH3-7-e007837-s001.pdf

View BVdb publication page

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Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient.

Journal Of Molecular And Cellular Cardiology

Selga, Elisabet E; Sendfeld, Franziska F; Martinez-Moreno, Rebecca R; Medine, Claire N CN; Tura-Ceide, Olga O; Wilmut, Sir Ian SI; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R; Mills, Nicholas L NL

Publication Date: 2018-01

Variant appearance in text: SCN5A: 1100G>A

PubMed Link: 29024690

Variant Present in the following documents:

• Main text
• mmc5.pdf
• main.pdf

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: 1100G>A; Arg367His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: R367H

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Evaluation Of Patients With Early Repolarization Syndrome.

Journal Of Atrial Fibrillation

Mahida, Saagar S; Sacher, Frederic F; Berte, Benjamin B; Yamashita, Seigo S; Lim, Han H; Derval, Nicolas N; Denis, Arnaud A; Shah, Ashok A; Amraoui, Sana S; Hocini, Meleze M; Jais, Pierre P; Haissaguerre, Michel M

Publication Date: 2014

Variant appearance in text: SCN5A: R367H

PubMed Link: 27957112

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: 1100G>A; R367H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.

Circulation. Arrhythmia And Electrophysiology

Basheer, Wassim A WA; Shaw, Robin M RM

Publication Date: 2016-06

Variant appearance in text: SCN5A: R367H

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R367H

PubMed Link: 26834636

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: LQT3: R367H; rs28937318

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: R367H; rs28937318

PubMed Link: 26367797

Variant Present in the following documents:

• 41586_2015_BFnature14962_MOESM15_ESM.xlsx, sheet 16

View BVdb publication page

---

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: R367H

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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Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Plos One

Selga, Elisabet E; Campuzano, Oscar O; Pinsach-Abuin, Mel Lina ML; Pérez-Serra, Alexandra A; Mademont-Soler, Irene I; Riuró, Helena H; Picó, Ferran F; Coll, Mònica M; Iglesias, Anna A; Pagans, Sara S; Sarquella-Brugada, Georgia G; Berne, Paola P; Benito, Begoña B; Brugada, Josep J; Porres, José M JM; López Zea, Matilde M; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Brugada, Ramon R

Publication Date: 2015

Variant appearance in text: SCN5A: 1100G>A; R367H

PubMed Link: 26173111

Variant Present in the following documents:

• Main text

View BVdb publication page

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Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular Genetics

Kapplinger, Jamie D JD; Giudicessi, John R JR; Ye, Dan D; Tester, David J DJ; Callis, Thomas E TE; Valdivia, Carmen R CR; Makielski, Jonathan C JC; Wilde, Arthur A AA; Ackerman, Michael J MJ

Publication Date: 2015-08

Variant appearance in text: SCN5A: R367H

PubMed Link: 25904541

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple lithium-dependent Brugada syndrome unmasking events in a bipolar patient.

Clinical Case Reports

Crawford, Rebecca R RR; Higdon, Ashlee N AN; Casey, David B DB; Good, David E DE; Mungrue, Imran N IN

Publication Date: 2015-01

Variant appearance in text: rs28937318

PubMed Link: 25678966

Variant Present in the following documents:

• Main text
• ccr30003-0014.pdf

View BVdb publication page

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Three cases of corticosteroid therapy triggering ventricular fibrillation in J-wave syndromes.

Heart And Vessels

Sakamoto, Naka N; Sato, Nobuyuki N; Goto, Masahide M; Kobayashi, Motoi M; Takehara, Naofumi N; Takeuchi, Toshiharu T; Talib, Ahmed Karim AK; Sugiyama, Eitaro E; Minoshima, Akiho A; Tanabe, Yasuko Y; Akasaka, Kazumi K; Kawabe, Junichi J; Kawamura, Yuichiro Y; Doi, Atsushi A; Hasebe, Naoyuki N

Publication Date: 2014-11

Variant appearance in text: SCN5A: R367H

PubMed Link: 24281399

Variant Present in the following documents:

• Main text
• 380_2013_Article_443.pdf

View BVdb publication page

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A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Plos One

Tarradas, Anna A; Selga, Elisabet E; Beltran-Alvarez, Pedro P; Pérez-Serra, Alexandra A; Riuró, Helena H; Picó, Ferran F; Iglesias, Anna A; Campuzano, Oscar O; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Pérez, Guillermo J GJ; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2013

Variant appearance in text: SCN5A: R367H

PubMed Link: 23308164

Variant Present in the following documents:

View BVdb publication page

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A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Circulation. Cardiovascular Genetics

Shinlapawittayatorn, Krekwit K; Dudash, Lynn A LA; Du, Xi X XX; Heller, Lisa L; Poelzing, Steven S; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2011-10

Variant appearance in text: SCN5A: R367H

PubMed Link: 21840964

Variant Present in the following documents:

• Main text

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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: SCN5A: R367H

PubMed Link: 20224422

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In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

Genomic Medicine

Sudandiradoss, C C; Sethumadhavan, Rao R

Publication Date: 2008-12

Variant appearance in text: rs28937318

PubMed Link: 19214780

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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: SCN5A: R367H

PubMed Link: 17198989

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Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.

Circulation

Hong, Kui K; Brugada, Josep J; Oliva, Antonio A; Berruezo-Sanchez, Antonio A; Potenza, Domenico D; Pollevick, Guido D GD; Guerchicoff, Alejandra A; Matsuo, Kiyotaka K; Burashnikov, Elena E; Dumaine, Robert R; Towbin, Jeffrey A JA; Nesterenko, Vladislav V; Brugada, Pedro P; Antzelevitch, Charles C; Brugada, Ramon R

Publication Date: 2004-11-09

Variant appearance in text: SCN5A: R367H

PubMed Link: 15520322

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