PubMed for id: 1646402

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Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.

Bébarová M, O'Hara T, Geelen JL, Jongbloed RJ, Timmermans C, Arens YH, Rodriguez LM, Rudy Y, Volders PG. Bébarová M, et al. Am J Physiol Heart Circ Physiol. 2008 Jul;295(1):H48-58. doi: 10.1152/ajpheart.91495.2007. Epub 2008 May 2. Am J Physiol Heart Circ Physiol. 2008. PMID: 18456723 Free PMC article.

Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives.

Tan HL, Hofman N, van Langen IM, van der Wal AC, Wilde AA. Tan HL, et al. Circulation. 2005 Jul 12;112(2):207-13. doi: 10.1161/CIRCULATIONAHA.104.522581. Epub 2005 Jul 5. Circulation. 2005. PMID: 15998675

E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.

Peters CH, Watkins AR, Poirier OL, Ruben PC. Peters CH, et al. J Gen Physiol. 2020 Sep 7;152(9):e202012595. doi: 10.1085/jgp.202012595. J Gen Physiol. 2020. PMID: 32569350 Free PMC article.

HCN4 Gene Variations in Sudden Unexplained Nocturnal Death Syndrome in the Southern Han Chinese Population.

Wu Q, Zhao Q, Yin K, Hu BJ, Cheng J. Wu Q, et al. J Forensic Sci. 2019 Jul;64(4):1112-1118. doi: 10.1111/1556-4029.13958. Epub 2018 Nov 19. J Forensic Sci. 2019. PMID: 30452770

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, Kwok SY, Rieubland C, Tfelt-Hansen J, Van Hare GF, Guyomarc'h-Delasalle B, Blom NA, Wijeyeratne YD, Gourraud JB, Le Marec H, Ozawa J, Fressart V, Lupoglazoff JM, Dagradi F, Spazzolini C, Aiba T, Tester DJ, Zahavich LA, Beauséjour-Ladouceur V, Jadhav M, Skinner JR, Franciosi S, Krahn AD, Abdelsayed M, Ruben PC, Yung TC, Ackerman MJ, Wilde AA, Schwartz PJ, Probst V. Baruteau AE, et al. Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412. Eur Heart J. 2018. PMID: 30059973 Free article.

The efficacy of Ranolazine on E1784K is altered by temperature and calcium.

Abdelsayed M, Ruprai M, Ruben PC. Abdelsayed M, et al. Sci Rep. 2018 Feb 26;8(1):3643. doi: 10.1038/s41598-018-22033-1. Sci Rep. 2018. PMID: 29483621 Free PMC article.

Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.

Huang L, Wu KH, Zhang L, Wang Q, Tang S, Wu Q, Jiang PH, Lin JJ, Guo J, Wang L, Loh SH, Cheng J. Huang L, et al. J Am Heart Assoc. 2018 Jan 6;7(1):e006320. doi: 10.1161/JAHA.117.006320. J Am Heart Assoc. 2018. PMID: 29306897 Free PMC article.

Differential calcium sensitivity in Na_V 1.5 mixed syndrome mutants.

Abdelsayed M, Baruteau AE, Gibbs K, Sanatani S, Krahn AD, Probst V, Ruben PC. Abdelsayed M, et al. J Physiol. 2017 Sep 15;595(18):6165-6186. doi: 10.1113/JP274536. Epub 2017 Aug 20. J Physiol. 2017. PMID: 28734073 Free PMC article.

An East Asian Common Variant Vinculin P.Asp841His Was Associated With Sudden Unexplained Nocturnal Death Syndrome in the Chinese Han Population.

Cheng J, Kyle JW, Lang D, Wiedmeyer B, Guo J, Yin K, Huang L, Vaidyanathan R, Su T, Makielski JC. Cheng J, et al. J Am Heart Assoc. 2017 Apr 3;6(4):e005330. doi: 10.1161/JAHA.116.005330. J Am Heart Assoc. 2017. PMID: 28373245 Free PMC article.

Vinculin variant M94I identified in sudden unexplained nocturnal death syndrome decreases cardiac sodium current.

Cheng J, Kyle JW, Wiedmeyer B, Lang D, Vaidyanathan R, Makielski JC. Cheng J, et al. Sci Rep. 2017 Feb 20;7:42953. doi: 10.1038/srep42953. Sci Rep. 2017. PMID: 28218286 Free PMC article.

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