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: I141V

PubMed Link: 37098502

Variant Present in the following documents:

• Main text
• 12872_2023_Article_3234.pdf

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A novel functional variant residing outside the SCN5A-encoded Nav1.5 voltage-sensing domain causes multifocal ectopic Purkinje-related premature contractions.

Heartrhythm Case Reports

Gao, Xiaozhi X; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ; Giudicessi, John R JR

Publication Date: 2022-01

Variant appearance in text: SCN5A: Ile141Val

PubMed Link: 35070709

Variant Present in the following documents:

• Main text

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: LQT3: I141V

PubMed Link: 35052786

Variant Present in the following documents:

• Main text
• biomedicines-10-00106.pdf

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Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Biomedicines

Martínez-Barrios, Estefanía E; Cesar, Sergi S; Cruzalegui, José J; Hernandez, Clara C; Arbelo, Elena E; Fiol, Victoria V; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O; Sarquella-Brugada, Georgia G

Publication Date: 2022-01-05

Variant appearance in text: LQT3: I141V

PubMed Link: 35052786

Variant Present in the following documents:

• Main text
• biomedicines-10-00106.pdf

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Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: SCN5A: Ile141Val

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf
• ehab687_supplementary_data.pdf

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Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.

Frontiers In Pharmacology

Song, Junxia J; Luo, Yanhong Y; Jiang, Ying Y; He, Jianfeng J

Publication Date: 2021

Variant appearance in text: SCN5A: I141V

PubMed Link: 34483927

Variant Present in the following documents:

• Main text
• fphar-12-718208.pdf

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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: 421A>G; Ile141Val

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12

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Biophysical Characterization of Epigallocatechin-3-Gallate Effect on the Cardiac Sodium Channel Nav1.5.

Molecules (Basel, Switzerland)

Amarouch, Mohamed-Yassine MY; Kurt, Han H; Delemotte, Lucie L; Abriel, Hugues H

Publication Date: 2020-02-18

Variant appearance in text: Nav1.5: I141V

PubMed Link: 32085432

Variant Present in the following documents:

• molecules-25-00902.pdf

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Cardiac Sodium Channel Dysfunction and Dilated Cardiomyopathy: A Contemporary Reappraisal of Pathophysiological Concepts.

Journal Of Clinical Medicine

Asatryan, Babken B

Publication Date: 2019-07-12

Variant appearance in text: SCN5A: I141V

PubMed Link: 31336969

Variant Present in the following documents:

• Main text
• jcm-08-01029.pdf

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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: I141V

PubMed Link: 30356750

Variant Present in the following documents:

• Main text
• fcvm-05-00139.pdf

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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: I141V

PubMed Link: 29806494

Variant Present in the following documents:

• Main text

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Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Pflugers Archiv : European Journal Of Physiology

Chadda, Karan R KR; Jeevaratnam, Kamalan K; Lei, Ming M; Huang, Christopher L-H CL

Publication Date: 2017-06

Variant appearance in text: SCN5A: I141V

PubMed Link: 28265756

Variant Present in the following documents:

• Main text

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In Silico Evaluation of the Potential Antiarrhythmic Effect of Epigallocatechin-3-Gallate on Cardiac Channelopathies.

Computational And Mathematical Methods In Medicine

Boukhabza, Maroua M; El Hilaly, Jaouad J; Attiya, Nourdine N; El-Haidani, Ahmed A; Filali-Zegzouti, Younes Y; Mazouzi, Driss D; Amarouch, Mohamed-Yassine MY

Publication Date: 2016

Variant appearance in text: Nav1.5: I141V

PubMed Link: 27882075

Variant Present in the following documents:

• CMMM2016-7861653.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN5A: I141V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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ICEPO: the ion channel electrophysiology ontology.

Database : The Journal Of Biological Databases And Curation

Hinard, V V; Britan, A A; Rougier, J S JS; Bairoch, A A; Abriel, H H; Gaudet, P P

Publication Date: 2016

Variant appearance in text: SCN5A: Ile141Val

PubMed Link: 27055825

Variant Present in the following documents:

• Main text
• baw017.pdf

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Antiarrhythmic Action of Flecainide in Polymorphic Ventricular Arrhythmias Caused by a Gain-of-Function Mutation in the Nav 1.5 Sodium Channel.

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

Amarouch, Mohamed Y MY; Swan, Heikki H; Leinonen, Jaakko J; Marjamaa, Annukka A; Lahtinen, Annukka M AM; Kontula, Kimmo K; Toivonen, Lauri L; Widen, Elisabeth E; Abriel, Hugues H

Publication Date: 2016-07

Variant appearance in text: SCN5A: I141V

PubMed Link: 26965448

Variant Present in the following documents:

• Main text

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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: SCN5A: I141V

PubMed Link: 26361848

Variant Present in the following documents:

• Main text

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Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

Frontiers In Physiology

Amarouch, Mohamed-Yassine MY; Abriel, Hugues H

Publication Date: 2015

Variant appearance in text: SCN5A: I141V

PubMed Link: 25741286

Variant Present in the following documents:

• Main text

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Complex genetic background in a large family with Brugada syndrome.

Physiological Reports

Saber, Siamak S; Amarouch, Mohamed-Yassine MY; Fazelifar, Amir-Farjam AF; Haghjoo, Majid M; Emkanjoo, Zahra Z; Alizadeh, Abolfath A; Houshmand, Massoud M; Gavrilenko, Alexander V AV; Abriel, Hugues H; Zaklyazminskaya, Elena V EV

Publication Date: 2015-01-01

Variant appearance in text: SCN5A: I141V

PubMed Link: 25626866

Variant Present in the following documents:

• Main text
• phy2-3-e12256.pdf

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Functional interaction between S1 and S4 segments in voltage-gated sodium channels revealed by human channelopathies.

Channels (Austin, Tex.)

Amarouch, Mohamed-Yassine MY; Kasimova, Marina A MA; Tarek, Mounir M; Abriel, Hugues H

Publication Date: 2014

Variant appearance in text: Nav1.5: I141V

PubMed Link: 25483584

Variant Present in the following documents:

• Main text

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