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Volumn 123, Issue 1, 2013, Pages 75-83

Molecular and genetic basis of sudden cardiac death

Author keywords

[No Author keywords available]

Indexed keywords

GLYCEROL 3 PHOSPHATE DEHYDROGENASE; POTASSIUM CHANNEL HERG; RYANODINE RECEPTOR 2;

EID: 84873828284     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI62928     Document Type: Review
Times cited : (68)

References (130)
  • 1
    • 78650158253 scopus 로고    scopus 로고
    • Sudden cardiac death prediction and prevention: Report from a national heart lung and blood institute and heart rhythm society workshop
    • Fishman GI, et al. Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop. Circulation. 2010;122(22): 2335-2348.
    • (2010) Circulation. , vol.122 , Issue.22 , pp. 2335-2348
    • Fishman, G.I.1
  • 2
    • 0035975980 scopus 로고    scopus 로고
    • Sudden cardiac death in the United States, 1989 to 1998
    • Zheng ZJ, Croft JB, Giles WH, Mensah GA. Sudden cardiac death in the United States, 1989 to 1998. Circulation. 2001;104(18): 2158-2163.
    • (2001) Circulation. , vol.104 , Issue.18 , pp. 2158-2163
    • Zheng, Z.J.1    Croft, J.B.2    Giles, W.H.3    Mensah, G.A.4
  • 3
    • 36048981858 scopus 로고    scopus 로고
    • Inherited arrhythmias: A national heart, lung, and blood institute and office of rare diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function
    • Lehnart SE, et al. Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation. 2007;116(20): 2325-2345.
    • (2007) Circulation. , vol.116 , Issue.20 , pp. 2325-2345
    • Lehnart, S.E.1
  • 4
    • 75549091621 scopus 로고    scopus 로고
    • Common genetic variants in sudden cardiac death
    • George AL Jr. Common genetic variants in sudden cardiac death. Heart Rhythm. 2009;6(11 suppl):S3-S9.
    • (2009) Heart Rhythm , vol.6 , Issue.11 SUPPL.
    • George Jr., A.L.1
  • 5
    • 84856812426 scopus 로고    scopus 로고
    • Epidemiology and genetics of sudden cardiac death
    • Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4): 620-637.
    • (2012) Circulation. , vol.125 , Issue.4 , pp. 620-637
    • Deo, R.1    Albert, C.M.2
  • 6
    • 79955393914 scopus 로고    scopus 로고
    • Structural heterogeneity promotes triggered activity, reflection and arrhythmogenesis in cardiomyocyte monolayers
    • Auerbach DS, Grzda KR, Furspan PB, Sato PY, Mironov S, Jalife J. Structural heterogeneity promotes triggered activity, reflection and arrhythmogenesis in cardiomyocyte monolayers. J Physiol. 2011;589(pt 9): 2363-2381.
    • (2011) J Physiol. , vol.589 , Issue.PART 9 , pp. 2363-2381
    • Auerbach, D.S.1    Grzda, K.R.2    Furspan, P.B.3    Sato, P.Y.4    Mironov, S.5    Jalife, J.6
  • 7
    • 44549086479 scopus 로고    scopus 로고
    • Cardiac fibrillation: From ion channels to rotors in the human heart
    • Vaquero M, Calvo D, Jalife J. Cardiac fibrillation: from ion channels to rotors in the human heart. Heart Rhythm. 2008;5(6): 872-879.
    • (2008) Heart Rhythm. , vol.5 , Issue.6 , pp. 872-879
    • Vaquero, M.1    Calvo, D.2    Jalife, J.3
  • 8
    • 0033379061 scopus 로고    scopus 로고
    • Transmural dispersion of repolarization and arrhythmogenicity: The Brugada syndrome versus the long QT syndrome
    • Antzelevitch C, Yan GX, Shimizu W. Transmural dispersion of repolarization and arrhythmogenicity: the Brugada syndrome versus the long QT syndrome. J Electrocardiol. 1999;32(suppl): 158-165.
    • (1999) J Electrocardiol. , vol.32 , Issue.SUPPL. , pp. 158-165
    • Antzelevitch, C.1    Yan, G.X.2    Shimizu, W.3
  • 9
    • 0032879716 scopus 로고    scopus 로고
    • Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation
    • Yan GX, Antzelevitch C. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation. Circulation. 1999;100(15): 1660-1666.
    • (1999) Circulation. , vol.100 , Issue.15 , pp. 1660-1666
    • Yan, G.X.1    Antzelevitch, C.2
  • 10
    • 0024264559 scopus 로고
    • Delayed afterdepolarizations in heart muscle: Mechanisms and relevance
    • January CT, Fozzard HA. Delayed afterdepolarizations in heart muscle: mechanisms and relevance. Pharmacol Rev. 1988;40(3): 219-227.
    • (1988) Pharmacol Rev. , vol.40 , Issue.3 , pp. 219-227
    • January, C.T.1    Fozzard, H.A.2
  • 11
    • 0026640211 scopus 로고
    • Cellular mechanisms of early afterdepolarizations
    • January CT, Moscucci A. Cellular mechanisms of early afterdepolarizations. Ann N Y Acad Sci. 1992;644: 23-32.
    • (1992) Ann N y Acad Sci. , vol.644 , pp. 23-32
    • January, C.T.1    Moscucci, A.2
  • 12
    • 0033617103 scopus 로고    scopus 로고
    • Calmodulin kinase inhibition prevents development of the arrhythmogenic transient inward current
    • Wu Y, Roden DM, Anderson ME. Calmodulin kinase inhibition prevents development of the arrhythmogenic transient inward current. Circ Res. 1999;84(8): 906-912.
    • (1999) Circ Res. , vol.84 , Issue.8 , pp. 906-912
    • Wu, Y.1    Roden, D.M.2    Anderson, M.E.3
  • 13
    • 84873855851 scopus 로고    scopus 로고
    • Genetic mutations and mechanisms in dilated cardiomyopathy
    • McNally EM, Golbus JR, Puckelwartz MJ. Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest. 2013;123(1): 19-26.
    • (2013) J Clin Invest. , vol.123 , Issue.1 , pp. 19-26
    • McNally, E.M.1    Golbus, J.R.2    Puckelwartz, M.J.3
  • 14
    • 0017843995 scopus 로고
    • QT interval prolongation as predictor of sudden death in patients with myocardial infarction
    • Schwartz PJ, Wolf S. QT interval prolongation as predictor of sudden death in patients with myocardial infarction. Circulation. 1978;57(6): 1074-1077.
    • (1978) Circulation. , vol.57 , Issue.6 , pp. 1074-1077
    • Schwartz, P.J.1    Wolf, S.2
  • 15
    • 61549120063 scopus 로고    scopus 로고
    • Determinants of prolonged QT interval and their contribution to sudden death risk in coronary artery disease: The Oregon Sudden Unexpected Death Study
    • Chugh SS, et al. Determinants of prolonged QT interval and their contribution to sudden death risk in coronary artery disease: the Oregon Sudden Unexpected Death Study. Circulation. 2009; 119(5): 663-670.
    • (2009) Circulation. , vol.119 , Issue.5 , pp. 663-670
    • Chugh, S.S.1
  • 16
    • 0031978985 scopus 로고    scopus 로고
    • The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death
    • Vincent GM. The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death. Annu Rev Med. 1998;49: 263-274.
    • (1998) Annu Rev Med. , vol.49 , pp. 263-274
    • Vincent, G.M.1
  • 17
    • 70449367296 scopus 로고    scopus 로고
    • Prevalence of the congenital long- QT syndrome
    • Schwartz PJ, et al. Prevalence of the congenital long- QT syndrome. Circulation. 2009;120(18): 1761-1767.
    • (2009) Circulation. , vol.120 , Issue.18 , pp. 1761-1767
    • Schwartz, P.J.1
  • 18
    • 0028914969 scopus 로고
    • A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    • Curran ME, et al. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995;80(5): 795-803.
    • (1995) Cell. , vol.80 , Issue.5 , pp. 795-803
    • Curran, M.E.1
  • 19
    • 0029002969 scopus 로고
    • A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel
    • Sanguinetti MC, Jiang C, Curran ME, Keating MT. A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell. 1995;81(2): 299-307.
    • (1995) Cell. , vol.81 , Issue.2 , pp. 299-307
    • Sanguinetti, M.C.1    Jiang, C.2    Curran, M.E.3    Keating, M.T.4
  • 20
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q, et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996;12(1): 17-23.
    • (1996) Nat Genet. , vol.12 , Issue.1 , pp. 17-23
    • Wang, Q.1
  • 22
    • 0033574273 scopus 로고    scopus 로고
    • MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    • Abbott GW, et al. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 1999;97(2): 175-187.
    • (1999) Cell. , vol.97 , Issue.2 , pp. 175-187
    • Abbott, G.W.1
  • 23
    • 0031278313 scopus 로고    scopus 로고
    • KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
    • Schulze-Bahr E, et al. KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet. 1997;17(3): 267-268.
    • (1997) Nat Genet. , vol.17 , Issue.3 , pp. 267-268
    • Schulze-Bahr, E.1
  • 24
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q, et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80(5): 805-811.
    • (1995) Cell. , vol.80 , Issue.5 , pp. 805-811
    • Wang, Q.1
  • 25
    • 34447307435 scopus 로고    scopus 로고
    • SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome
    • Medeiros-Domingo A, et al. SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome. Circulation. 2007;116(2): 134-142.
    • (2007) Circulation. , vol.116 , Issue.2 , pp. 134-142
    • Medeiros-Domingo, A.1
  • 26
    • 5344223383 scopus 로고    scopus 로고
    • CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
    • Splawski I, et al. CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1): 19-31.
    • (2004) Cell. , vol.119 , Issue.1 , pp. 19-31
    • Splawski, I.1
  • 27
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster NM, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001;105(4): 511-519.
    • (2001) Cell. , vol.105 , Issue.4 , pp. 511-519
    • Plaster, N.M.1
  • 28
    • 77953119778 scopus 로고    scopus 로고
    • Identification of a Kir3.4 mutation in congenital long QT syndrome
    • Yang Y, et al. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet. 2010;86(6): 872-880.
    • (2010) Am J Hum Genet. , vol.86 , Issue.6 , pp. 872-880
    • Yang, Y.1
  • 29
    • 0242464931 scopus 로고    scopus 로고
    • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • Mohler PJ, et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003;421(6923): 634-639.
    • (2003) Nature. , vol.421 , Issue.6923 , pp. 634-639
    • Mohler, P.J.1
  • 30
    • 33751016041 scopus 로고    scopus 로고
    • Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    • Vatta M, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006;114(20): 2104-2112.
    • (2006) Circulation. , vol.114 , Issue.20 , pp. 2104-2112
    • Vatta, M.1
  • 32
    • 73949159312 scopus 로고    scopus 로고
    • Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current
    • Cheng J, et al. Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythm Electrophysiol. 2009;2(6): 667-676.
    • (2009) Circ Arrhythm Electrophysiol. , vol.2 , Issue.6 , pp. 667-676
    • Cheng, J.1
  • 33
    • 0034609531 scopus 로고    scopus 로고
    • Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
    • Splawski I, et al. Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102(10): 1178-1185.
    • (2000) Circulation , vol.102 , Issue.10 , pp. 1178-1185
    • Splawski, I.1
  • 34
    • 0003425462 scopus 로고    scopus 로고
    • A common polymorphism associated with antibiotic-induced cardiac arrhythmia
    • Sesti F, et al. A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A. 2000;97(19): 10613-10618.
    • (2000) Proc Natl Acad Sci U S A. , vol.97 , Issue.19 , pp. 10613-10618
    • Sesti, F.1
  • 35
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
    • Neyroud N, et al. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997;15(2): 186-189.
    • (1997) Nat Genet. , vol.15 , Issue.2 , pp. 186-189
    • Neyroud, N.1
  • 36
    • 0032903775 scopus 로고    scopus 로고
    • Novel mechanism associated with an inherited cardiac arrhythmia: Defective protein trafficking by the mutant HERG (G601S) potassium channel
    • Furutani M, et al. Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel. Circulation. 1999;99(17): 2290-2294.
    • (1999) Circulation. , vol.99 , Issue.17 , pp. 2290-2294
    • Furutani, M.1
  • 37
    • 33644851751 scopus 로고    scopus 로고
    • Most LQT2 mutations reduce KV11.1 (hERG) current by a class 2 (trafficking- deficient) mechanism
    • Anderson CL, et al. Most LQT2 mutations reduce KV11.1 (hERG) current by a class 2 (trafficking- deficient) mechanism. Circulation. 2006; 113(3): 365-373.
    • (2006) Circulation. , vol.113 , Issue.3 , pp. 365-373
    • Anderson, C.L.1
  • 38
    • 0037129911 scopus 로고    scopus 로고
    • Pharmacological rescue of human K+ channel long-QT2 mutations: Human ether-a-go-gorelated gene rescue without block
    • Rajamani S, Anderson CL, Anson BD, January CT. Pharmacological rescue of human K+ channel long-QT2 mutations: human ether-a-go-gorelated gene rescue without block. Circulation. 2002;105(24): 2830-2835.
    • (2002) Circulation. , vol.105 , Issue.24 , pp. 2830-2835
    • Rajamani, S.1    Anderson, C.L.2    Anson, B.D.3    January, C.T.4
  • 39
    • 45749137120 scopus 로고    scopus 로고
    • Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome
    • Brunner M, et al. Mechanisms of cardiac arrhythmias and sudden death in transgenic rabbits with long QT syndrome. J Clin Invest. 2008;118(6): 2246-2259.
    • (2008) J Clin Invest. , vol.118 , Issue.6 , pp. 2246-2259
    • Brunner, M.1
  • 40
    • 34547471450 scopus 로고    scopus 로고
    • Zebrafish model for human long QT syndrome
    • Arnaout R, et al. Zebrafish model for human long QT syndrome. Proc Natl Acad Sci U S A. 2007; 104(27): 11316-11321.
    • (2007) Proc Natl Acad Sci U S A. , vol.104 , Issue.27 , pp. 11316-11321
    • Arnaout, R.1
  • 41
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • Kapplinger JD, et al. Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009; 6(9): 1297-1303.
    • (2009) Heart Rhythm. , vol.6 , Issue.9 , pp. 1297-1303
    • Kapplinger, J.D.1
  • 42
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett PB, Yazawa K, Makita N, George AL Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 1995;376(6542): 683-685.
    • (1995) Nature. , vol.376 , Issue.6542 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George Jr., A.L.4
  • 43
    • 48249148221 scopus 로고    scopus 로고
    • Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    • Ueda K, et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008;105(27): 9355-9360.
    • (2008) Proc Natl Acad Sci U S A. , vol.105 , Issue.27 , pp. 9355-9360
    • Ueda, K.1
  • 44
    • 0034800266 scopus 로고    scopus 로고
    • Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome
    • Nuyens D, et al. Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat Med. 2001;7(9): 1021-1027.
    • (2001) Nat Med. , vol.7 , Issue.9 , pp. 1021-1027
    • Nuyens, D.1
  • 45
    • 0028874658 scopus 로고
    • Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate - Implications for gene-specific therapy
    • Schwartz PJ, et al. Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na+ channel blockade and to increases in heart rate - Implications for gene-specific therapy. Circulation. 1995;92(12): 3381-3386.
    • (1995) Circulation. , vol.92 , Issue.12 , pp. 3381-3386
    • Schwartz, P.J.1
  • 47
    • 33646386662 scopus 로고    scopus 로고
    • Molecular basis of ranolazine block of LQT-3 mutant sodium channels: Evidence for site of action
    • Fredj S, Sampson KJ, Liu H, Kass RS. Molecular basis of ranolazine block of LQT-3 mutant sodium channels: evidence for site of action. Br J Pharmacol. 2006;148(1): 16-24.
    • (2006) Br J Pharmacol. , vol.148 , Issue.1 , pp. 16-24
    • Fredj, S.1    Sampson, K.J.2    Liu, H.3    Kass, R.S.4
  • 48
    • 53049104215 scopus 로고    scopus 로고
    • Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome
    • Moss AJ, Zareba W, Schwarz KQ, Rosero S, McNitt S, Robinson JL. Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol. 2008;19(12): 1289-1293.
    • (2008) J Cardiovasc Electrophysiol. , vol.19 , Issue.12 , pp. 1289-1293
    • Moss, A.J.1    Zareba, W.2    Schwarz, K.Q.3    Rosero, S.4    McNitt, S.5    Robinson, J.L.6
  • 50
    • 74549172996 scopus 로고    scopus 로고
    • Latent genetic backgrounds and molecular pathogenesis in drug-induced long- QT syndrome
    • Itoh H, et al. Latent genetic backgrounds and molecular pathogenesis in drug-induced long- QT syndrome. Circ Arrhythm Electrophysiol. 2009; 2(5): 511-523.
    • (2009) Circ Arrhythm Electrophysiol. , vol.2 , Issue.5 , pp. 511-523
    • Itoh, H.1
  • 51
    • 84881170186 scopus 로고    scopus 로고
    • Novel rare variants in congenital cardiac arrhythmia genes are frequent in druginduced torsades de pointes
    • [published online ahead of print May 15 2012] doi:10.1038/tpj.2012.14
    • Ramire AH, et al. Novel rare variants in congenital cardiac arrhythmia genes are frequent in druginduced torsades de pointes [published online ahead of print May 15, 2012]. Pharmacogenomics J. doi:10.1038/tpj.2012.14.
    • Pharmacogenomics J
    • Ramire, A.H.1
  • 52
    • 84859315750 scopus 로고    scopus 로고
    • A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes
    • Kääb S, et al. A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet. 2011;5(1): 91-99.
    • (2011) Circ Cardiovasc Genet. , vol.5 , Issue.1 , pp. 91-99
    • Kääb, S.1
  • 53
    • 33644832519 scopus 로고    scopus 로고
    • Long QT syndrome: Reduced repolarization reserve and the genetic link
    • Roden DM. Long QT syndrome: reduced repolarization reserve and the genetic link. J Intern Med. 2006;259(1): 59-69.
    • (2006) J Intern Med. , vol.259 , Issue.1 , pp. 59-69
    • Roden, D.M.1
  • 54
    • 0037161355 scopus 로고    scopus 로고
    • Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes
    • Yang P, et al. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation. 2002;105(16): 1943-1948.
    • (2002) Circulation. , vol.105 , Issue.16 , pp. 1943-1948
    • Yang, P.1
  • 55
    • 33644874052 scopus 로고    scopus 로고
    • New mechanism contributing to druginduced arrhythmia: Rescue of a misprocessed LQT3 mutant
    • Liu K, et al. New mechanism contributing to druginduced arrhythmia: rescue of a misprocessed LQT3 mutant. Circulation. 2005;112(21): 3239-3246.
    • (2005) Circulation. , vol.112 , Issue.21 , pp. 3239-3246
    • Liu, K.1
  • 56
    • 84862849809 scopus 로고    scopus 로고
    • Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant
    • Crotti L, et al. Torsades de pointes following acute myocardial infarction: Evidence for a deadly link with a common genetic variant. Heart Rhythm. 2012;9(7): 1104-1112.
    • (2012) Heart Rhythm. , vol.9 , Issue.7 , pp. 1104-1112
    • Crotti, L.1
  • 57
    • 0028298042 scopus 로고
    • Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
    • Tawil R, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994;35(3): 326-330.
    • (1994) Ann Neurol. , vol.35 , Issue.3 , pp. 326-330
    • Tawil, R.1
  • 58
    • 32444450201 scopus 로고    scopus 로고
    • Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype
    • Yoon G, et al. Andersen-Tawil syndrome: Prospective cohort analysis and expansion of the phenotype. Am J Med Genet A. 2006;140(4): 312-321.
    • (2006) Am J Med Genet A. , vol.140 , Issue.4 , pp. 312-321
    • Yoon, G.1
  • 60
    • 20344388309 scopus 로고    scopus 로고
    • Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: Characteristic T-U-wave patterns predict the KCNJ2 genotype
    • Zhang L, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005; 111(21): 2720-2726.
    • (2005) Circulation. , vol.111 , Issue.21 , pp. 2720-2726
    • Zhang, L.1
  • 61
    • 0037384899 scopus 로고    scopus 로고
    • Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome
    • Hosaka Y, et al. Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome. J Mol Cell Cardiol. 2003;35(4): 409-415.
    • (2003) J Mol Cell Cardiol. , vol.35 , Issue.4 , pp. 409-415
    • Hosaka, Y.1
  • 62
    • 0036324229 scopus 로고    scopus 로고
    • Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
    • Tristani-Firouzi M, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110(3): 381-388.
    • (2002) J Clin Invest. , vol.110 , Issue.3 , pp. 381-388
    • Tristani-Firouzi, M.1
  • 63
    • 0038116653 scopus 로고    scopus 로고
    • Molecular dissection of the inward rectifier potassium current IK1 in rabbit cardiomyocytes: Evidence for heteromeric co-assembly of Kir2.1 and Kir2.2
    • Zobel C, et al. Molecular dissection of the inward rectifier potassium current IK1 in rabbit cardiomyocytes: evidence for heteromeric co-assembly of Kir2.1 and Kir2.2. J Physiol. 2003;550(pt 2): 365-372.
    • (2003) J Physiol. , vol.550 , Issue.PART 2 , pp. 365-372
    • Zobel, C.1
  • 64
    • 0035875149 scopus 로고    scopus 로고
    • The consequences of disrupting cardiac inwardly rectifying K+ current IK1 as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes
    • Zaritsky JJ, Redell JB, Tempel BL, Schwarz TL. The consequences of disrupting cardiac inwardly rectifying K+ current IK1 as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes. J Physiol. 2001;533(pt 3): 697-710.
    • (2001) J Physiol. , vol.533 , Issue.PART 3 , pp. 697-710
    • Zaritsky, J.J.1    Redell, J.B.2    Tempel, B.L.3    Schwarz, T.L.4
  • 65
    • 0037975497 scopus 로고    scopus 로고
    • Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression
    • Miake J, Marban E, Nuss HB. Functional role of inward rectifier current in heart probed by Kir2.1 overexpression and dominant-negative suppression. J Clin Invest. 2003;111(10): 1529-1536.
    • (2003) J Clin Invest. , vol.111 , Issue.10 , pp. 1529-1536
    • Miake, J.1    Marban, E.2    Nuss, H.B.3
  • 66
    • 0037777713 scopus 로고    scopus 로고
    • PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome
    • Donaldson MR, et al. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003;60(11): 1811-1816.
    • (2003) Neurology. , vol.60 , Issue.11 , pp. 1811-1816
    • Donaldson, M.R.1
  • 68
    • 33847245577 scopus 로고    scopus 로고
    • Trafficking-competent and trafficking- defective KCNJ2 mutations in Andersen syndrome
    • Ballester LY, et al. Trafficking-competent and trafficking- defective KCNJ2 mutations in Andersen syndrome. Hum Mutat. 2006;27(4):388.
    • (2006) Hum Mutat , vol.27 , Issue.4 , pp. 388
    • Ballester, L.Y.1
  • 69
    • 0034698084 scopus 로고    scopus 로고
    • Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K+ current in K+-mediated vasodilation
    • Zaritsky JJ, Eckman DM, Wellman GC, Nelson MT, Schwarz TL. Targeted disruption of Kir2.1 and Kir2.2 genes reveals the essential role of the inwardly rectifying K+ current in K+-mediated vasodilation. Circ Res. 2000;87(2): 160-166.
    • (2000) Circ Res. , vol.87 , Issue.2 , pp. 160-166
    • Zaritsky, J.J.1    Eckman, D.M.2    Wellman, G.C.3    Nelson, M.T.4    Schwarz, T.L.5
  • 70
    • 33144477356 scopus 로고    scopus 로고
    • Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7)
    • Tsuboi M, Antzelevitch C. Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). Heart Rhythm. 2006;3(3): 328-335.
    • (2006) Heart Rhythm. , vol.3 , Issue.3 , pp. 328-335
    • Tsuboi, M.1    Antzelevitch, C.2
  • 71
    • 34447550271 scopus 로고    scopus 로고
    • Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome
    • Morita H, Zipes DP, Morita ST, Wu J. Mechanism of U wave and polymorphic ventricular tachycardia in a canine tissue model of Andersen-Tawil syndrome. Cardiovasc Res. 2007;75(3): 510-518.
    • (2007) Cardiovasc Res. , vol.75 , Issue.3 , pp. 510-518
    • Morita, H.1    Zipes, D.P.2    Morita, S.T.3    Wu, J.4
  • 72
    • 20444426877 scopus 로고    scopus 로고
    • Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    • Splawski I, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005;102(23): 8089-8096.
    • (2005) Proc Natl Acad Sci U S A. , vol.102 , Issue.23 , pp. 8089-8096
    • Splawski, I.1
  • 73
    • 41149167595 scopus 로고    scopus 로고
    • The Timothy syndrome mutation differentially affects voltage- and calcium- dependent inactivation of CaV1.2 L-type calcium channels
    • Barrett CF, Tsien RW. The Timothy syndrome mutation differentially affects voltage- and calcium- dependent inactivation of CaV1.2 L-type calcium channels. Proc Natl Acad Sci U S A. 2008; 105(6): 2157-2162.
    • (2008) Proc Natl Acad Sci U S A. , vol.105 , Issue.6 , pp. 2157-2162
    • Barrett, C.F.1    Tsien, R.W.2
  • 74
    • 57749181755 scopus 로고    scopus 로고
    • Proarrhythmic defects in Timothy syndrome require calmodulin kinase II
    • Thiel WH, et al. Proarrhythmic defects in Timothy syndrome require calmodulin kinase II. Circulation. 2008;118(22): 2225-2234.
    • (2008) Circulation , vol.118 , Issue.22 , pp. 2225-2234
    • Thiel, W.H.1
  • 75
    • 0042859880 scopus 로고    scopus 로고
    • Short QT Syndrome: A familial cause of sudden death
    • Gaita F, et al. Short QT Syndrome: a familial cause of sudden death. Circulation. 2003;108(8): 965-970.
    • (2003) Circulation. , vol.108 , Issue.8 , pp. 965-970
    • Gaita, F.1
  • 76
    • 2542491002 scopus 로고    scopus 로고
    • Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
    • Bellocq C, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004;109(20): 2394-2397.
    • (2004) Circulation. , vol.109 , Issue.20 , pp. 2394-2397
    • Bellocq, C.1
  • 77
    • 0346727397 scopus 로고    scopus 로고
    • Sudden death associated with short-QT syndrome linked to mutations in HERG
    • Brugada R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004;109(1): 30-35.
    • (2004) Circulation. , vol.109 , Issue.1 , pp. 30-35
    • Brugada, R.1
  • 78
    • 20244364402 scopus 로고    scopus 로고
    • A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
    • Priori SG, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005;96(7): 800-807.
    • (2005) Circ Res. , vol.96 , Issue.7 , pp. 800-807
    • Priori, S.G.1
  • 79
    • 33846627787 scopus 로고    scopus 로고
    • Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
    • Antzelevitch C, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115(4): 442-449.
    • (2007) Circulation. , vol.115 , Issue.4 , pp. 442-449
    • Antzelevitch, C.1
  • 80
    • 84655160739 scopus 로고    scopus 로고
    • Identification of a novel lossof- function calcium channel gene mutation in short QT syndrome (SQTS6)
    • Templin C, et al. Identification of a novel lossof- function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J. 2011; 32(9): 1077-1088.
    • (2011) Eur Heart J. , vol.32 , Issue.9 , pp. 1077-1088
    • Templin, C.1
  • 81
    • 39449089053 scopus 로고    scopus 로고
    • Deficient zebrafish ether-a-gogo- related gene channel gating causes short-QT syndrome in zebrafish reggae mutants
    • Hassel D, et al. Deficient zebrafish ether-a-gogo- related gene channel gating causes short-QT syndrome in zebrafish reggae mutants. Circulation. 2008;117(7): 866-875.
    • (2008) Circulation. , vol.117 , Issue.7 , pp. 866-875
    • Hassel, D.1
  • 82
    • 84857980121 scopus 로고    scopus 로고
    • Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome
    • Casini S, Postma AV. Decreased inward rectification of Kir2.1 channels is a novel mechanism underlying the short QT syndrome. Cardiovasc Res. 2012; 93(4): 535-536.
    • (2012) Cardiovasc Res. , vol.93 , Issue.4 , pp. 535-536
    • Casini, S.1    Postma, A.V.2
  • 83
    • 0032502026 scopus 로고    scopus 로고
    • Right bundlebranch block and ST-segment elevation in leads V1 through V3: A marker for sudden death in patients without demonstrable structural heart disease
    • Brugada J, Brugada R, Brugada P. Right bundlebranch block and ST-segment elevation in leads V1 through V3: a marker for sudden death in patients without demonstrable structural heart disease. Circulation. 1998;97(5): 457-460.
    • (1998) Circulation. , vol.97 , Issue.5 , pp. 457-460
    • Brugada, J.1    Brugada, R.2    Brugada, P.3
  • 84
    • 0034620574 scopus 로고    scopus 로고
    • Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts
    • Brugada R, et al. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation. 2000;101(5): 510-515.
    • (2000) Circulation. , vol.101 , Issue.5 , pp. 510-515
    • Brugada, R.1
  • 85
    • 33646524315 scopus 로고    scopus 로고
    • A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation
    • Keller DI, et al. A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation. Cardiovasc Res. 2006;70(3): 521-529.
    • (2006) Cardiovasc Res. , vol.70 , Issue.3 , pp. 521-529
    • Keller, D.I.1
  • 86
    • 0036471801 scopus 로고    scopus 로고
    • Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    • Vatta M, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet. 2002;11(3): 337-345.
    • (2002) Hum Mol Genet. , vol.11 , Issue.3 , pp. 337-345
    • Vatta, M.1
  • 87
    • 84944282688 scopus 로고
    • Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon
    • Baron RC, Thacker SB, Gorelkin L, Vernon AA, Taylor WR, Choi K. Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon. JAMA. 1983;250(21): 2947-2951.
    • (1983) JAMA , vol.250 , Issue.21 , pp. 2947-2951
    • Baron, R.C.1    Thacker, S.B.2    Gorelkin, L.3    Vernon, A.A.4    Taylor, W.R.5    Choi, K.6
  • 88
    • 0030850439 scopus 로고    scopus 로고
    • Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men
    • Nademanee K, et al. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation. 1997;96(8): 2595-2600.
    • (1997) Circulation. , vol.96 , Issue.8 , pp. 2595-2600
    • Nademanee, K.1
  • 89
    • 33747146463 scopus 로고    scopus 로고
    • SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    • Poelzing S, et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation. 2006;114(5): 368-376.
    • (2006) Circulation. , vol.114 , Issue.5 , pp. 368-376
    • Poelzing, S.1
  • 90
    • 77949508337 scopus 로고    scopus 로고
    • Variable NaV1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a+/- mouse model
    • Leoni AL, et al. Variable NaV1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a+/- mouse model. PLoS One. 2010;19(2):e9298.
    • (2010) PLoS One , vol.19 , Issue.2
    • Leoni, A.L.1
  • 91
    • 80052334693 scopus 로고    scopus 로고
    • KCNE5 (KCNE1L) Variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation
    • Ohno S, et al. KCNE5 (KCNE1L) Variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ Arrhythm Electrophysiol. 2011;4(3): 352-361.
    • (2011) Circ Arrhythm Electrophysiol. , vol.4 , Issue.3 , pp. 352-361
    • Ohno, S.1
  • 92
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998;392(6673): 293-296.
    • (1998) Nature. , vol.392 , Issue.6673 , pp. 293-296
    • Chen, Q.1
  • 93
    • 1442356568 scopus 로고    scopus 로고
    • Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
    • Schulze-Bahr E, et al. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat. 2003;21(6): 651-652.
    • (2003) Hum Mutat. , vol.21 , Issue.6 , pp. 651-652
    • Schulze-Bahr, E.1
  • 94
    • 0037059852 scopus 로고    scopus 로고
    • Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome
    • Baroudi G, Acharfi S, Larouche C, Chahine M. Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ Res. 2002; 90(1):E11-E16.
    • (2002) Circ Res. , vol.90 , Issue.1
    • Baroudi, G.1    Acharfi, S.2    Larouche, C.3    Chahine, M.4
  • 95
    • 0035933766 scopus 로고    scopus 로고
    • Novel mechanism for Brugada syndrome: Defective surface localization of an SCN5A mutant (R1432G)
    • Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M. Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ Res. 2001;88(12):E78-E83.
    • (2001) Circ Res , vol.88 , Issue.12
    • Baroudi, G.1    Pouliot, V.2    Denjoy, I.3    Guicheney, P.4    Shrier, A.5    Chahine, M.6
  • 96
    • 1542268995 scopus 로고    scopus 로고
    • A trafficking defective brugada syndrome-causing scn5a mutation rescued by drugs
    • Valdivia CR, et al. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc Res. 2004;62(1): 53-62.
    • (2004) Cardiovasc Res. , vol.62 , Issue.1 , pp. 53-62
    • Valdivia, C.R.1
  • 97
    • 0032741905 scopus 로고    scopus 로고
    • Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    • Dumaine R, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res. 1999;85(9): 803-809.
    • (1999) Circ Res. , vol.85 , Issue.9 , pp. 803-809
    • Dumaine, R.1
  • 99
    • 0342827876 scopus 로고    scopus 로고
    • Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
    • Rook MB, et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res. 1999;44(3): 507-517.
    • (1999) Cardiovasc Res. , vol.44 , Issue.3 , pp. 507-517
    • Rook, M.B.1
  • 100
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H, et al. Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest. 2008;118(6): 2260-2268.
    • (2008) J Clin Invest. , vol.118 , Issue.6 , pp. 2260-2268
    • Watanabe, H.1
  • 101
    • 69549145477 scopus 로고    scopus 로고
    • A mutation in the β3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
    • Hu D, et al. A mutation in the β3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet. 2009;2(3): 270-278.
    • (2009) Circ Cardiovasc Genet. , vol.2 , Issue.3 , pp. 270-278
    • Hu, D.1
  • 102
    • 36049001507 scopus 로고    scopus 로고
    • Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
    • London B, et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007;116(20): 2260-2268.
    • (2007) Circulation. , vol.116 , Issue.20 , pp. 2260-2268
    • London, B.1
  • 103
    • 70349628999 scopus 로고    scopus 로고
    • GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A
    • Valdivia CR, Ueda K, Ackerman MJ, Makielski JC. GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A. Am J Physiol Heart Circ Physiol. 2009;297(4):H1446-H1452.
    • (2009) Am J Physiol Heart Circ Physiol , vol.297 , Issue.4
    • Valdivia, C.R.1    Ueda, K.2    Ackerman, M.J.3    Makielski, J.C.4
  • 104
    • 70350125580 scopus 로고    scopus 로고
    • Cardiac Na+ current regulation by pyridine nucleotides
    • Liu M, et al. Cardiac Na+ current regulation by pyridine nucleotides. Circ Res. 2009;105(8): 737-745.
    • (2009) Circ Res. , vol.105 , Issue.8 , pp. 737-745
    • Liu, M.1
  • 105
    • 63349104489 scopus 로고    scopus 로고
    • Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome
    • Cordeiro JM, Marieb M, Pfeiffer R, Calloe K, Burashnikov E, Antzelevitch C. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. J Mol Cell Cardiol. 2009;46(5): 695-703.
    • (2009) J Mol Cell Cardiol. , vol.46 , Issue.5 , pp. 695-703
    • Cordeiro, J.M.1    Marieb, M.2    Pfeiffer, R.3    Calloe, K.4    Burashnikov, E.5    Antzelevitch, C.6
  • 106
    • 79959921753 scopus 로고    scopus 로고
    • Transient outward current (Ito) gain-of-function mutations in the KCND3- encoded KV4.3 potassium channel and Brugada syndrome
    • Giudicessi JR, et al. Transient outward current (Ito) gain-of-function mutations in the KCND3- encoded KV4.3 potassium channel and Brugada syndrome. Heart Rhythm. 2011;8(7): 1024-1032.
    • (2011) Heart Rhythm. , vol.8 , Issue.7 , pp. 1024-1032
    • Giudicessi, J.R.1
  • 107
    • 77957268950 scopus 로고    scopus 로고
    • Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes
    • Medeiros-Domingo A, et al. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm. 2010;7(10): 1466-1471.
    • (2010) Heart Rhythm. , vol.7 , Issue.10 , pp. 1466-1471
    • Medeiros-Domingo, A.1
  • 108
    • 22544451292 scopus 로고    scopus 로고
    • Pathophysiological mechanisms of Brugada syndrome: Depolarization disorder, repolarization disorder, or more?
    • Meregalli PG, Wilde AA, Tan HL. Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more? Cardiovasc Res. 2005;67(3): 367-378.
    • (2005) Cardiovasc Res. , vol.67 , Issue.3 , pp. 367-378
    • Meregalli, P.G.1    Wilde, A.A.2    Tan, H.L.3
  • 110
    • 33846225256 scopus 로고    scopus 로고
    • Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease
    • Zhang ZS, Tranquillo J, Neplioueva V, Bursac N, Grant AO. Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease. Am J Physiol Heart Circ Physiol. 2007;292(1):H399-H407.
    • (2007) Am J Physiol Heart Circ Physiol , vol.292 , Issue.1
    • Zhang, Z.S.1    Tranquillo, J.2    Neplioueva, V.3    Bursac, N.4    Grant, A.O.5
  • 111
    • 27844591399 scopus 로고    scopus 로고
    • Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: A combined electrophysiological, genetic, histopathologic, and computational study
    • Coronel R, et al. Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study. Circulation. 2005;112(18): 2769-2777.
    • (2005) Circulation. , vol.112 , Issue.18 , pp. 2769-2777
    • Coronel, R.1
  • 112
    • 67651128831 scopus 로고    scopus 로고
    • Slow and discontinuous conduction conspire in Brugada syndrome: A right ventricular mapping and stimulation study
    • Postema PG, et al. Slow and discontinuous conduction conspire in Brugada syndrome: a right ventricular mapping and stimulation study. Circ Arrhythm Electrophysiol. 2008;1(5): 379-386.
    • (2008) Circ Arrhythm Electrophysiol. , vol.1 , Issue.5 , pp. 379-386
    • Postema, P.G.1
  • 113
    • 76449089572 scopus 로고    scopus 로고
    • Local depolarization abnormalities are the dominant pathophysiologic mechanism for type 1 electrocardiogram in brugada syndrome a study of electrocardiograms, vectorcardiograms, and body surface potential maps during ajmaline provocation
    • Postema PG, et al. Local depolarization abnormalities are the dominant pathophysiologic mechanism for type 1 electrocardiogram in brugada syndrome a study of electrocardiograms, vectorcardiograms, and body surface potential maps during ajmaline provocation. J Am Coll Cardiol. 2010;55(8): 789-797.
    • (2010) J Am Coll Cardiol. , vol.55 , Issue.8 , pp. 789-797
    • Postema, P.G.1
  • 114
    • 79954629348 scopus 로고    scopus 로고
    • Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium
    • Nademanee K, et al. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation. 2011;123(12): 1270-1279.
    • (2011) Circulation. , vol.123 , Issue.12 , pp. 1270-1279
    • Nademanee, K.1
  • 115
    • 18344362987 scopus 로고    scopus 로고
    • Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a
    • Papadatos GA, et al. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci U S A. 2002;99(9): 6210-6215.
    • (2002) Proc Natl Acad Sci U S A. , vol.99 , Issue.9 , pp. 6210-6215
    • Papadatos, G.A.1
  • 116
    • 79551476266 scopus 로고    scopus 로고
    • In vivo studies of Scn5a+/- mice modeling Brugada syndrome demonstrate both conduction and repolarization abnormalities
    • Martin CA, Zhang Y, Grace AA, Huang CL. In vivo studies of Scn5a+/- mice modeling Brugada syndrome demonstrate both conduction and repolarization abnormalities. J Electrocardiol. 2010; 43(5): 433-439.
    • (2010) J Electrocardiol. , vol.43 , Issue.5 , pp. 433-439
    • Martin, C.A.1    Zhang, Y.2    Grace, A.A.3    Huang, C.L.4
  • 117
    • 78649301999 scopus 로고    scopus 로고
    • Increased right ventricular repolarization gradients promote arrhythmogenesis in a murine model of Brugada syndrome
    • Martin CA, Zhang Y, Grace AA, Huang CL. Increased right ventricular repolarization gradients promote arrhythmogenesis in a murine model of Brugada syndrome. J Cardiovasc Electrophysiol. 2010;21(10): 1153-1159.
    • (2010) J Cardiovasc Electrophysiol. , vol.21 , Issue.10 , pp. 1153-1159
    • Martin, C.A.1    Zhang, Y.2    Grace, A.A.3    Huang, C.L.4
  • 118
    • 33746788063 scopus 로고    scopus 로고
    • Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: Insights from a RyR2 R4496C knock-in mouse model
    • Liu N, et al. Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. Circ Res. 2006;99(3): 292-298.
    • (2006) Circ Res. , vol.99 , Issue.3 , pp. 292-298
    • Liu, N.1
  • 119
    • 0028957403 scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients
    • Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995;91(5): 1512-1519.
    • (1995) Circulation , vol.91 , Issue.5 , pp. 1512-1519
    • Leenhardt, A.1    Lucet, V.2    Denjoy, I.3    Grau, F.4    Ngoc, D.D.5    Coumel, P.6
  • 120
    • 0035895322 scopus 로고    scopus 로고
    • Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
    • Priori SG, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103(2): 196-200.
    • (2001) Circulation. , vol.103 , Issue.2 , pp. 196-200
    • Priori, S.G.1
  • 121
    • 0035205336 scopus 로고    scopus 로고
    • A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
    • Lahat H, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet. 2001;69(6): 1378-1384.
    • (2001) Am J Hum Genet. , vol.69 , Issue.6 , pp. 1378-1384
    • Lahat, H.1
  • 122
    • 84861719157 scopus 로고    scopus 로고
    • Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human
    • Roux-Buisson N, et al. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012;21(12): 2759-2767.
    • (2012) Hum Mol Genet. , vol.21 , Issue.12 , pp. 2759-2767
    • Roux-Buisson, N.1
  • 123
    • 33847058737 scopus 로고    scopus 로고
    • Beta-adrenergic enhancement of sarcoplasmic reticulum calcium leak in cardiac myocytes is mediated by calcium/calmodulin-dependent protein kinase
    • Curran J, Hinton MJ, Ríos E, Bers DM, Shannon TR. Beta-adrenergic enhancement of sarcoplasmic reticulum calcium leak in cardiac myocytes is mediated by calcium/calmodulin-dependent protein kinase. Circ Res. 2007;100(3): 391-398.
    • (2007) Circ Res. , vol.100 , Issue.3 , pp. 391-398
    • Curran, J.1    Hinton, M.J.2    Ríos, E.3    Bers, D.M.4    Shannon, T.R.5
  • 124
    • 70449578224 scopus 로고    scopus 로고
    • Beta-adrenergic signaling accelerates and synchronizes cardiac ryanodine receptor response to a single L-type Ca2+ channel
    • Zhou P, et al. Beta-adrenergic signaling accelerates and synchronizes cardiac ryanodine receptor response to a single L-type Ca2+ channel. Proc Natl Acad Sci U S A. 2009;106(42): 18028-18033.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , Issue.42 , pp. 18028-18033
    • Zhou, P.1
  • 125
    • 59849125934 scopus 로고    scopus 로고
    • Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2 R4496C underlies catecholaminergic polymorphic ventricular tachycardia
    • Fernandez-Velasco M, et al. Increased Ca2+ sensitivity of the ryanodine receptor mutant RyR2 R4496C underlies catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2009;104(2): 201-209.
    • (2009) Circ Res. , vol.104 , Issue.2 , pp. 201-209
    • Fernandez-Velasco, M.1
  • 126
    • 33748292955 scopus 로고    scopus 로고
    • Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia
    • Knollmann BC, et al. Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2006;116(9): 2510-2520.
    • (2006) J Clin Invest. , vol.116 , Issue.9 , pp. 2510-2520
    • Knollmann, B.C.1
  • 127
    • 53549118870 scopus 로고    scopus 로고
    • Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: A complex arrhythmogenic cascade in a knock in mouse model
    • Rizzi N, et al. Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model. Circ Res. 2008;103(3): 298-306.
    • (2008) Circ Res. , vol.103 , Issue.3 , pp. 298-306
    • Rizzi, N.1
  • 129
    • 66149129989 scopus 로고    scopus 로고
    • Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias
    • Chopra N, et al. Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias. Proc Natl Acad Sci U S A. 2009;106(18): 7636-7641.
    • (2009) Proc Natl Acad Sci U S A. , vol.106 , Issue.18 , pp. 7636-7641
    • Chopra, N.1
  • 130
    • 84873821513 scopus 로고    scopus 로고
    • Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias
    • Priori SG, Napolitano C, Di Pasquale E, Condorelli G. Induced pluripotent stem cell-derived cardiomyocytes in studies of inherited arrhythmias. J Clin Invest. 2013;123(1): 84-91.
    • (2013) J Clin Invest. , vol.123 , Issue.1 , pp. 84-91
    • Priori, S.G.1    Napolitano, C.2    Di Pasquale, E.3    Condorelli, G.4


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