| 1 | BRGS1, SCN5A
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| High-Throughput Reclassification of SCN5A Variants
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| Glazer AM, Wada Y, Li B, Muhammad A, Kalash OR, O'Neill MJ, Shields T, Hall L, Short L, Blair MA, Kroncke BM, Capra JA, Roden DM
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| Am J Hum Genet. Jul 2;107(1):111-123. doi: 10.1016/j.ajhg.2020.05.015. Epub 2020 Jun 12 2020
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| 2 | SCN2B, SCN5A
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| N-Glycosylation of the voltage-gated sodium channel β2 subunit is required for efficient trafficking of NaV1.5/β2 to the plasma membrane
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| Cortada E, Brugada R, Verges M.
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| J Biol Chem. Nov 1;294(44):16123-16140. doi: 10.1074/jbc.RA119.007903. Epub 2019 Sep 11. 2019
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| 3 | BRGS1, LQT3, SCN5A
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| Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.
|
| Remme CA.
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| J Physiol Physiol. 2013 Jul 29. [Epub ahead of print]
2013
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| 4 | LQT3, SCN5A
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| Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene.
|
| Uziębło-Życzkowska B, Michałkiewicz D, Jackun-Podleśna A, Gielerak G, Zienciuk-Krajka A.
|
| Cardiol J 20(1):78-82. doi: 10.5603/CJ.2013.0012.
2013
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| 5 | HEY2, SCN10A, SCN5A
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| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
|
| Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R.
|
| Nat Genet 45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Erratum in: Nat Genet. 2013 Nov;45(11):1409. Borggrefe, Martin [added]; Sc 2013
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| 6 | PRMT3, PRMT5, SCN5A
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| Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel
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| Beltran-Alvarez P, Espejo A, Schmauder R, Beltran C, Mrowka R, Linke T, Batlle M, Pérez-Villa F, Pérez GJ, Scornik FS, Benndorf K, Pagans S, Zimmer T, Brugada R.
|
| FEBS Lett. Oct 1;587(19):3159-65. doi: 10.1016/j.febslet.2013.07.043. Epub 2013 Jul 31. 2013
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| 7 | CMD1E, SCN5A
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| R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
|
| Mann SA, Castro ML, Ohanian M, Guo G, Zodgekar P, Sheu A, Stockhammer K, Thompson T, Playford D, Subbiah R, Kuchar D, Aggarwal A, Vandenberg JI, Fatkin D.
|
| J Am Coll Cardiol 60(16):1566-73. doi: 10.1016/j.jacc.2012.05.050. Epub 2012 Sep 19.
2012
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| 8 | GJA1, SCN5A
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| Cx43 associates with Na(v)1.5 in the cardiomyocyte perinexus.
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| Rhett JM, Ongstad EL, Jourdan J, Gourdie RG.
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| J Membr Biol 245(7):411-22. doi: 10.1007/s00232-012-9465-z. Epub 2012 Jul 19.
2012
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| 9 | SCN5a, TBX5
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| TBX5 drives Scn5a expression to regulate cardiac conduction system function.
|
| Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IP.
|
| J Clin Invest 122(7):2509-18. doi: 10.1172/JCI62617. Epub 2012 Jun 25.
2012
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| 10 | SCN5A
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| iology of cardiac sodium channel Nav1.5 expression.
|
| Rook MB, Evers MM, Vos MA, Bierhuizen MF.
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| Cardiovasc Res 93(1):12-23. doi: 10.1093/cvr/cvr252. Epub 2011 Sep 21. Review.
2012
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| 11 | SCN5A, SLMAP
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| A novel disease gene for Brugada syndrome: sarcolemmal membrane-associated protein gene mutations impair intracellular trafficking of hNav1.5.
|
| Ishikawa T, Sato A, Marcou CA, Tester DJ, Ackerman MJ, Crotti L, Schwartz PJ, On YK, Park JE, Nakamura K, Hiraoka M, Nakazawa K, Sakurada H, Arimura T, Makita N, Kimura A.
|
| Circ Arrhythm Electrophysiol 5(6):1098-107. doi: 10.1161/CIRCEP.111.969972. Epub 2012 Oct 12.
2012
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| 12 | DLG1, SCN5A
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| SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes.
|
| Petitprez S, Zmoos AF, Ogrodnik J, Balse E, Raad N, El-Haou S, Albesa M, Bittihn P, Luther S, Lehnart SE, Hatem SN, Coulombe A, Abriel H.
|
| Circ Res 108(3):294-304. doi: 10.1161/CIRCRESAHA.110.228312. Epub 2010 Dec 16.
2011
|
| 13 | CMD1E, SCN5A
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| SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
|
| McNair WP, Sinagra G, Taylor MR, Di Lenarda A, Ferguson DA, Salcedo EE, Slavov D, Zhu X, Caldwell JH, Mestroni L; Familial Cardiomyopathy Registry Research Group.
|
| J Am Coll Cardiol 57(21):2160-8. doi: 10.1016/j.jacc.2010.09.084.
2011
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| 14 | SCN1A, SCN2A, SCN3A, SCN5A
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| Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain.
|
| Gazina EV, Richards KL, Mokhtar MB, Thomas EA, Reid CA, Petrou S.
|
| Neuroscience 166(1):195-200. Epub 2009 Dec 17.PMID: 20006674 2010
|
| 15 | KCNE1, SCN5A
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| Common variants in cardiac ion channel genes are associated with sudden cardiac death.
|
| Albert CM, MacRae CA, Chasman DI, VanDenburgh M, Buring JE, Manson JE, Cook NR, Newton-Cheh C.
|
| Circ Arrhythm Electrophysiol 3(3):222-9. Epub 2010 Apr 17.
2010
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| 16 | SCN5A
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| Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.
|
| Li Q, Huang H, Liu G, Lam K, Rutberg J, Green MS, Birnie DH, Lemery R, Chahine M, Gollob MH.
|
| Biochem Biophys Res Commun 380(1):132-7. Epub 2009 Jan 22.
2009
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| 17 | LQT3, SCN5A
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| Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
|
| Huang H, Millat G, Rodriguez-Lafrasse C, Rousson R, Kugener B, Chevalier P, Chahine M.
|
| FEBS Lett 583(5):890-6. Epub 2009 Feb 10.
2009
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| 18 | GPD1L, SCN5A
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| GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
|
| Valdivia CR, Ueda K, Ackerman MJ, Makielski JC.
|
| Am J Physiol Heart Circ Physiol 297(4):H1446-52. Epub 2009 Aug 7.PMID: 19666841 2009
|
| 19 | BRGS1, BRGS10, BRGS2, BRGS3, BRGS4, BRGS5, BRGS6, BRGS7, BRGS9, CACN2B, CACNA1C, GPD1L, KCNE3, SCN1B, SCN3B, SCN5A
|
| The genetic basis of Brugada syndrome: a mutation update.
|
| Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M.
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| Hum Mutat 30(9):1256-66. Review.PMID: 19606473 2009
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| 20 | SCN5A, RANGRF
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| Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.
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| Wu L, Yong SL, Fan C, Ni Y, Yoo S, Zhang T, Zhang X, Obejero-Paz CA, Rho HJ, Ke T, Szafranski P, Jones SW, Chen Q, Wang QK.
|
| J Biol Chem 283(11):6968-78. Epub 2008 Jan 9. 2008
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| 21 | SCN5A
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| Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
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| Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL, George AL Jr, Roden DM.
|
| Circulation 117(15):1927-35. Epub 2008 Mar 31. 2008
|
| 22 | SCN5A, LQT3
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| SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
|
| Shan L, Makita N, Xing Y, Watanabe S, Futatani T, Ye F, Saito K, Ibuki K, Watanabe K, Hirono K, Uese K, Ichida F, Miyawaki T, Origasa H, Bowles NE, Towbin JA.
|
| Mol Genet Metab 93(4):468-74. 2008
|
| 23 | SCN5A, TCAP
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| A mutation in telethonin alters Nav1.5 function.
|
| Mazzone A, Strege PR, Tester DJ, Bernard CE, Faulkner G, De Giorgio R, Makielski JC, Stanghellini V, Gibbons SJ, Ackerman MJ, Farrugia G.
|
| J Biol Chem 283(24):16537-44. Epub 2008 Apr 11. Erratum in: J Biol Chem. 2008 Aug 8;283(32):22336.
2008
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| 24 | LQT3, SCN5A
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| The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
| Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL Jr, Roden DM.
|
| J Clin Invest 118(6):2219-29.PMID: 18451998 2008
|
| 25 | SCN5A, SNTA1
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| Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
|
| Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC.
|
| Proc Natl Acad Sci U S A 105(27):9355-60. Epub 2008 Jun 30.PMID: 18591664 2008
|
| 26 | BRGS1, SCN5A
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| A novel mutation in the SCN5A gene is associated with Brugada syndrome.
|
| Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.
|
| Life Sci 80(8):716-24. Epub 2006 Dec 1.
2007
|
| 27 | CMD1E, SCN5A
|
| Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
|
| Hesse M, Kondo CS, Clark RB, Su L, Allen FL, Geary-Joo CT, Kunnathu S, Severson DL, Nygren A, Giles WR, Cross JC.
|
| Cardiovasc Res 75(3):498-509. Epub 2007 Apr 21.
2007
|
| 28 | LQT3, SCN5A
|
| A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
|
| Tan BH, Iturralde-Torres P, Medeiros-Domingo A, Nava S, Tester DJ, Valdivia CR, Tusié-Luna T, Ackerman MJ, Makielski JC.
|
| Cardiovasc Res 76(3):409-17. Epub 2007 Aug 22.PMID: 17897635 2007
|
| 29 | LQT3, SCN5A
|
| Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
|
| Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AA, Veldkamp MW.
|
| Cardiovasc Res 76(3):418-29. Epub 2007 Aug 22.PMID: 17854786 2007
|
| 30 | KCNQ1, LQT1, KCNE1, KCNE2, LQT5, LQT6, SCN5A, LQT3, KCNH2, LQT2
|
| Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
| Millat G, Chevalier P, Restier-Miron L, Da Costa A, Bouvagnet P, Kugener B, Fayol L, Gonzalez Armengod C, Oddou B, Chanavat V, Froidefond E, Perraudin R, Rousson R, Rodriguez-Lafrasse C.
|
| Clin Genet 70(3):214-27. 2006
|
| 31 | SCN5A, LQT3
|
| A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.
|
| Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT.
|
| J Med Genet 43(10):817-21. Epub 2006 May 17. 2006
|
| 32 | SCN5A
|
| Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
|
| Cordeiro JM, Barajas-Martinez H, Hong K, Burashnikov E, Pfeiffer R, Orsino AM, Wu YS, Hu D, Brugada J, Brugada P, Antzelevitch C, Dumaine R, Brugada R.
|
| Circulation 114(19):2026-33. Epub 2006 Oct 30. 2006
|
| 33 | YWHAH, SCN5A
|
| 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5.
|
| Allouis M, Le Bouffant F, Wilders R, PŽroz D, Schott JJ, Noireaud J, Le Marec H, MŽrot J, Escande D, Bar— I.
|
| Circ Res 98(12):1538-46. Epub 2006 May 25. 2006
|
| 34 | PTPN3, SCN5A
|
| Cardiac sodium channel Na(v)1.5 interacts with and is regulated by the protein tyrosine phosphatase PTPH1.
|
| Jespersen T, Gavillet B, van Bemmelen MX, Cordonier S, Thomas MA, Staub O, Abriel H.
|
| Biochem Biophys Res Commun 348(4):1455-62. Epub 2006 Aug 10.PMID: 16930557 2006
|
| 35 | SCN5A
|
| Genetic Polymorphisms and Haplotypes of the Human Cardiac Sodium Channel alpha Subunit Gene (SCN5A) in Japanese and their Association with Arrhythmia.
|
| Maekawa K, Saito Y, Ozawa S, Adachi-Akahane S, Kawamoto M, Komamura K, Shimizu W, Ueno K, Kamakura S, Kamatani N, Kitakaze M, Sawada J.
|
| Ann Hum Genet 69(Pt 4):413-28. 2005
|
| 36 | KCNQ1, KCNE1, KCNH2, SCN5A
|
| Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
|
| Gouas L, Nicaud V, Berthet M, Forhan A, Tiret L, Balkau B, Guicheney P; D.
|
| Eur J Hum Genet 13(11):1213-22. 2005
|
| 37 | BRGS1, SCN5A
|
| Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.
|
| Itoh H, Shimizu M, Mabuchi H, Imoto K.
|
| J Cardiovasc Electrophysiol 16(4):378-83. 2005
|
| 38 | KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2
|
| Single nucleotide polymorphism map of five long-QT genes.
|
| Aydin A, Bahring S, Dahm S, Guenther UP, Uhlmann R, Busjahn A, Luft FC.
|
| J Mol Med 83(2):159-65. Epub 2004 Dec 15. 2005
|
| 39 | SCN5A, BRGS1
|
| A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
|
| Smits JP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MM, Balser JR, Tan HL, Bezzina CR, Wilde AA.
|
| J Mol Cell Cardiol 38(6):969-81. Epub 2005 Apr 1. 2005
|
| 40 | SCN5A, BRGS1
|
| Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.
|
| Keller DI, Rougier JS, Kucera JP, Benammar N, Fressart V, Guicheney P, Madle A, Fromer M, Schlapfer J, Abriel H.
|
| Cardiovasc Res 67(3):510-9. 2005
|
| 41 | LQT3, SCN5A
|
| Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood.
|
| Beaufort-Krol GC, van den Berg MP, Wilde AA, van Tintelen JP, Viersma JW, Bezzina CR, Bink-Boelkens MT.
|
| J Am Coll Cardiol 46(2):331-7. 2005
|
| 42 | SCN5A
|
| Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter.
|
| Yang P, Kupershmidt S, Roden DM.
|
| Cardiovasc Res 61(1):56-65. 2004
|
| 43 | SCN5A, CMD1E
|
| SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
|
| McNair WP, Ku L, Taylor MR, Fain PR, Dao D, Wolfel E, Mestroni L; Familial Cardiomyopathy Registry Research Group.
|
| Circulation 110(15):2163-7. Epub 2004 Oct 4. 2004
|
| 44 | SCN5A, NEDD4, NEDD4L
|
| Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination.
|
| van Bemmelen MX, Rougier JS, Gavillet B, Apotheloz F, Daidie D, Tateyama M, Rivolta I, Thomas MA, Kass RS, Staub O, Abriel H.
|
| Circ Res 95(3):284-91. Epub 2004 Jun 24. 2004
|
| 45 | PCCD1, SCN5A
|
| Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease.
|
| Probst V, Kyndt F, Potet F, Trochu JN, Mialet G, Demolombe S, Schott JJ, Baro I, Escande D, Le Marec H.
|
| J Am Coll Cardiol 41(4):643-52. 2003
|
| 46 | SSS1, SCN5A
|
| Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
|
| Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr.
|
| J Clin Invest 112(7):1019-28. 2003
|
| 47 | SCN5A
|
| A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.
|
| Makielski JC, Ye B, Valdivia CR, Pagel MD, Pu J, Tester DJ, Ackerman MJ.
|
| Circ Res 93(9):821-8. Epub 2003 Sep 18. 2003
|
| 48 | ATFB1A, CMD1E, GJA5, SCN5A
|
| A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
|
| Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA.
|
| Circ Res 92(1):14-22. 2003
|
| 49 | PCCD2, SCN5A
|
| Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
| Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA.
|
| Hum Mol Genet 11(3):337-45. 2002
|
| 50 | PCCD2, SCN5A
|
| Novel mutations in domain I of SCN5A cause Brugada syndrome.
|
| Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA.
|
| Mol Genet Metab 75(4):317-24. 2002
|
| 51 | SCN5A
|
| Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
|
| Splawski I, Timothy KW, Tateyama M, Clancy CE, Malhotra A, Beggs AH, Cappuccio FP, Sagnella GA, Kass RS, Keating MT.
|
| Science 297(5585):1333-6. 2002
|
| 52 | SCN5A
|
| SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.
|
| Chen S, Chung MK, Martin D, Rozich R, Tchou PJ, Wang Q.
|
| J Med Genet 39(12):913-5. 2002
|
| 53 | SCN5A, PCCD2
|
| Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.
|
| Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori S.
|
| J Clin Invest 110(8):1201-9. 2002
|
| 54 | BRGS1, SCN5A
|
| Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3.
|
| Weiss R, Barmada MM, Nguyen T, Seibel JS, Cavlovich D, Kornblit CA, Angelilli A, Villanueva F, McNamara DM, London B.
|
| Circulation 105(6):707-13. 2002
|
| 55 | PCCD1, SCN5A
|
| A sodium-channel mutation causes isolated cardiac conduction disease.
|
| tan Hl, Bink-Boelkens MTE, Bezzina CR, Viswanathan PC, Beaufort-Krol GCM, van Tintelen PJ, van den Berg MP, Wilde AAM, Baiser JR.
|
| Nature 409 : 1043. 2001
|
| 56 | SCN5A
|
| Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
| Abriel H, Cabo C, Wehrens XH, Rivolta I, Motoike HK, Memmi M, Napolitano C, Priori SG, Kass RS.
|
| Circ Res 88(7):740-5. 2001
|
| 57 | LQT3, SCN5A
|
| Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
|
| Makita N, Shirai N, Wang DW, Sasaki K, George AL Jr, Kanno M, Kitabatake A.
|
| Circulation 101(1):54-60. 2000
|
| 58 | LQT3, SCN5A
|
| A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
| Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R.
|
| N Engl J Med 343(4):262-7. No abstract available. 2000
|
| 59 | KCNE1, KCNH2, KCNQ1, SCN5A
|
| Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
|
| Iwasa H, Itoh T, Nagai R, Nakamura Y, Tanaka T.
|
| J Hum Genet 45(3):182-3. 2000
|
| 60 | PCCD1, PCCD2, SCN5A
|
| A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
|
| Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M.
|
| FEBS Lett 479(1-2):29-34. 2000
|
| 61 | LQT3, SCN5A
|
| Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
| Wei J, et al.
|
| Circulation 99(24):3165-71 1999
|
| 62 | PCCD1, SCN5A
|
| Cardiac conduction defects associate with mutations in SCN5A.
|
| Schott JJ, et al.
|
| Nat Genet 23(1):20-1. No abstract available 1999
|
| 63 | LQT3, SCN5A
|
| Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia.
|
| Clancy CE, et al.
|
| Nature 400(6744):566-9 1999
|
| 64 | PCCD2, SCN5A, BRGS1
|
| Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
| Rook MB, Alshinawi CB, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA.
|
| Cardiovasc Res 44(3):507-17. 1999
|
| 65 | BRGD, SCN5A
|
| A single Na(+) channel mutation causing both long-QT and Brugada syndromes.
|
| Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA.
|
| Circ Res 85(12):1206-13. 1999
|
| 66 | PCCD2, SCN5A
|
| Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
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