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Volumn 6, Issue 8, 2009, Pages 1176-1177

Compound heterozygous SCN5A mutations: Does the sum of the parts equal the whole?

Author keywords

[No Author keywords available]

Indexed keywords

BRUGADA SYNDROME; EDITORIAL; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HEART ARRHYTHMIA; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; QT PROLONGATION; SCN5A GENE;

EID: 67650713533     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2009.05.012     Document Type: Editorial
Times cited : (2)

References (17)
  • 1
    • 67650741355 scopus 로고    scopus 로고
    • Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations incloving SCN5A
    • Medeiros-Domingo A., Tan B.-H., Tores P.I., et al. Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations incloving SCN5A. Heart Rhythm 6 (2009) 1170-1175
    • (2009) Heart Rhythm , vol.6 , pp. 1170-1175
    • Medeiros-Domingo, A.1    Tan, B.-H.2    Tores, P.I.3
  • 2
    • 34247212362 scopus 로고    scopus 로고
    • Clinical aspects and prognosis of Brugada syndrome in children
    • Probst V., Denjoy I., Meregalli P.G., et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 115 (2007) 2042-2048
    • (2007) Circulation , vol.115 , pp. 2042-2048
    • Probst, V.1    Denjoy, I.2    Meregalli, P.G.3
  • 3
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 4
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott J.J., Alshinawi C., Kyndt F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23 (1999) 20-21
    • (1999) Nat Genet , vol.23 , pp. 20-21
    • Schott, J.J.1    Alshinawi, C.2    Kyndt, F.3
  • 5
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson T.M., Michels V.V., Ballew J.D., et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293 (2005) 447-454
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3
  • 6
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q., Kirsch G.E., Zhang D., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392 (1998) 293-296
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 7
    • 0035860984 scopus 로고    scopus 로고
    • Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman M.J., Siu B.L., Sturner W.Q., et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286 (2001) 2264-2269
    • (2001) JAMA , vol.286 , pp. 2264-2269
    • Ackerman, M.J.1    Siu, B.L.2    Sturner, W.Q.3
  • 8
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson D.W., Wang D.W., Dyment M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112 (2003) 1019-1028
    • (2003) J Clin Invest , vol.112 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3
  • 9
    • 0007519279 scopus 로고    scopus 로고
    • Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block
    • Lupoglazoff J.M., Cheav T., Baroudi G., et al. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res 89 (2001) E16-E21
    • (2001) Circ Res , vol.89
    • Lupoglazoff, J.M.1    Cheav, T.2    Baroudi, G.3
  • 10
    • 0037423552 scopus 로고    scopus 로고
    • Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
    • Bezzina C.R., Rook M.B., Groenewegen W.A., et al. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res 92 (2003) 159-168
    • (2003) Circ Res , vol.92 , pp. 159-168
    • Bezzina, C.R.1    Rook, M.B.2    Groenewegen, W.A.3
  • 11
    • 43049105386 scopus 로고    scopus 로고
    • Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations
    • Remme C.A., Wilde A.A., and Bezzina C.R. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med 18 (2008) 78-87
    • (2008) Trends Cardiovasc Med , vol.18 , pp. 78-87
    • Remme, C.A.1    Wilde, A.A.2    Bezzina, C.R.3
  • 12
    • 15744372528 scopus 로고    scopus 로고
    • Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins
    • Abriel H., and Kass R.S. Regulation of the voltage-gated cardiac sodium channel Nav1.5 by interacting proteins. Trends Cardiovasc Med 15 (2005) 35-40
    • (2005) Trends Cardiovasc Med , vol.15 , pp. 35-40
    • Abriel, H.1    Kass, R.S.2
  • 14
    • 23644433670 scopus 로고    scopus 로고
    • Inherited disorders of voltage-gated sodium channels
    • George Jr. A.L. Inherited disorders of voltage-gated sodium channels. J Clin Invest 115 (2005) 1990-1999
    • (2005) J Clin Invest , vol.115 , pp. 1990-1999
    • George Jr., A.L.1
  • 15
    • 62149147220 scopus 로고    scopus 로고
    • Mouse models of SCN5A-related cardiac arrhythmias
    • Charpentier F., Bourge A., and Merot J. Mouse models of SCN5A-related cardiac arrhythmias. Prog Biophys Mol Biol 98 (2008) 230-237
    • (2008) Prog Biophys Mol Biol , vol.98 , pp. 230-237
    • Charpentier, F.1    Bourge, A.2    Merot, J.3
  • 16
    • 0037423617 scopus 로고    scopus 로고
    • Transition from a continuous to discontinuous understanding of cardiac conduction
    • Spach M.S. Transition from a continuous to discontinuous understanding of cardiac conduction. Circ Res 92 (2003) 125-126
    • (2003) Circ Res , vol.92 , pp. 125-126
    • Spach, M.S.1
  • 17
    • 0142059667 scopus 로고    scopus 로고
    • "Are we there yet?": deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits
    • Page G.P., George V., Go R.C., et al. "Are we there yet?": deciding when one has demonstrated specific genetic causation in complex diseases and quantitative traits. Am J Hum Genet 73 (2003) 711-719
    • (2003) Am J Hum Genet , vol.73 , pp. 711-719
    • Page, G.P.1    George, V.2    Go, R.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.