메뉴 건너뛰기




Volumn 24, Issue 3, 2016, Pages 400-407

SCN4A variants and Brugada syndrome: Phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.4; SCN4A PROTEIN, HUMAN;

EID: 84958107654     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.125     Document Type: Article
Times cited : (30)

References (58)
  • 1
    • 23644433670 scopus 로고    scopus 로고
    • Inherited disorders of voltage-gated sodium channels
    • George Jr AL. Inherited disorders of voltage-gated sodium channels. J Clin Invest 2005; 115: 1990-1999
    • (2005) J Clin Invest , vol.115 , pp. 1990-1999
    • George, A.L.1
  • 2
    • 72449147774 scopus 로고    scopus 로고
    • An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
    • Kapplinger JD, Tester DJ, Alders M., et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010; 7: 33-46
    • (2010) Heart Rhythm , vol.7 , pp. 33-46
    • Kapplinger, J.D.1    Tester, D.J.2    Alders, M.3
  • 4
    • 85047688777 scopus 로고    scopus 로고
    • Prevalence study of genetically defined skeletal muscle channelopathies in England
    • Horga A, Raja Rayan DL, Matthews E., et al. Prevalence study of genetically defined skeletal muscle channelopathies in England. Neurology 2013; 80: 1472-1475
    • (2013) Neurology , vol.80 , pp. 1472-1475
    • Horga, A.1    Raja Rayan, D.L.2    Matthews, E.3
  • 5
    • 0037469197 scopus 로고    scopus 로고
    • Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization
    • Péréon Y, Lande G, Demolombe S., et al. Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization. Neurology 2003; 60: 340-342
    • (2003) Neurology , vol.60 , pp. 340-342
    • Péréon, Y.1    Lande, G.2    Demolombe, S.3
  • 6
    • 67650881934 scopus 로고    scopus 로고
    • Atypical arrhythmic complications in familial hypokalemic periodic paralysis
    • Maffè S, Signorotti F, Perucca A., et al. Atypical arrhythmic complications in familial hypokalemic periodic paralysis. J Cardiovasc Med (Hagerstown) 2009; 10: 68-71
    • (2009) J Cardiovasc Med (Hagerstown , vol.10 , pp. 68-71
    • Maffè, S.1    Signorotti, F.2    Perucca, A.3
  • 7
    • 61849102904 scopus 로고    scopus 로고
    • Voltage-gated Na+ channel transcript patterns in the mammalian heart are species-dependent
    • Blechschmidt S, Haufe V, Benndorf K, Zimmer T: Voltage-gated Na+ channel transcript patterns in the mammalian heart are species-dependent. Prog Biophys Mol Biol 2008; 98: 309-318
    • (2008) Prog Biophys Mol Biol , vol.98 , pp. 309-318
    • Blechschmidt, S.1    Haufe, V.2    Benndorf, K.3    Zimmer, T.4
  • 8
    • 84880330131 scopus 로고    scopus 로고
    • Distribution and function of sodium channel subtypes in human atrial myocardium
    • Kaufmann SG, Westenbroek RE, Maass AH., et al. Distribution and function of sodium channel subtypes in human atrial myocardium. J Mol Cell Cardiol 2013; 61: 133-141
    • (2013) J Mol Cell Cardiol , vol.61 , pp. 133-141
    • Kaufmann, S.G.1    Westenbroek, R.E.2    Maass, A.H.3
  • 11
    • 9144223871 scopus 로고    scopus 로고
    • Electromyography guides toward subgroups of mutations in muscle channelopathies
    • Fournier E, Arzel M, Sternberg D., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650-661
    • (2004) Ann Neurol , vol.56 , pp. 650-661
    • Fournier, E.1    Arzel, M.2    Sternberg, D.3
  • 12
    • 33749493507 scopus 로고    scopus 로고
    • Cold extends electromyography distinction between ion channel mutations causing myotonia
    • Fournier E, Viala K, Gervais H., et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60: 356-365
    • (2006) Ann Neurol , vol.60 , pp. 356-365
    • Fournier, E.1    Viala, K.2    Gervais, H.3
  • 13
    • 37849048763 scopus 로고    scopus 로고
    • What causes paramyotonia in the United Kingdom?. Common and new SCN4A mutations revealed
    • Matthews E, Tan SV, Fialho D., et al. What causes paramyotonia in the United Kingdom?. Common and new SCN4A mutations revealed. Neurology 2008; 70: 50-53
    • (2008) Neurology , vol.70 , pp. 50-53
    • Matthews, E.1    Tan, S.V.2    Fialho, D.3
  • 16
    • 33644792475 scopus 로고    scopus 로고
    • Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population
    • Gouas L, Nicaud V, Berthet M., et al. Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population. Eur J Hum Genet 2005; 13: 1213-1222
    • (2005) Eur J Hum Genet , vol.13 , pp. 1213-1222
    • Gouas, L.1    Nicaud, V.2    Berthet, M.3
  • 17
    • 1842867252 scopus 로고    scopus 로고
    • A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: Electrophysiologic, histopathologic, and molecular genetic studies
    • Kim DS, Kim EJ, Jung DS., et al. A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies. J Korean Med Sci 2002; 17: 856-860
    • (2002) J Korean Med Sci , vol.17 , pp. 856-860
    • Kim, D.S.1    Kim, E.J.2    Jung, D.S.3
  • 18
    • 80051598905 scopus 로고    scopus 로고
    • A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature
    • Bissay V, Keymolen K, Lissens W, Schmedding E, De Keyser J: A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature. J Neurol Sci 2011; 308: 162-164
    • (2011) J Neurol Sci , vol.308 , pp. 162-164
    • Bissay, V.1    Keymolen, K.2    Lissens, W.3    Schmedding, E.4    De Keyser, J.5
  • 19
    • 84891708821 scopus 로고    scopus 로고
    • Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes
    • Priori SG, Wilde AA, Horie M., et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace 2013; 15: 1389-1406
    • (2013) Europace , vol.15 , pp. 1389-1406
    • Priori, S.G.1    Wilde, A.A.2    Horie, M.3
  • 20
    • 0037494946 scopus 로고    scopus 로고
    • The ajmaline challenge in Brugada syndrome: Diagnostic impact, safety, and recommended protocol
    • Rolf S, Bruns HJ, Wichter T., et al. The ajmaline challenge in Brugada syndrome: diagnostic impact, safety, and recommended protocol. Eur Heart J 2003; 24: 1104-1112
    • (2003) Eur Heart J , vol.24 , pp. 1104-1112
    • Rolf, S.1    Bruns, H.J.2    Wichter, T.3
  • 21
    • 84937675870 scopus 로고    scopus 로고
    • Personalized medicine: Genetic diagnosis for inherited cardiomyopathies/channelopathies
    • Ackerman MJ, Marcou CA, Tester DJ. Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathies. Rev Esp Cardiol 2013; 66: 298-307
    • (2013) Rev Esp Cardiol , vol.66 , pp. 298-307
    • Ackerman, M.J.1    Marcou, C.A.2    Tester, D.J.3
  • 22
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25: 1754-1760
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 24
    • 68549104404 scopus 로고    scopus 로고
    • The sequence alignment/map format and SAMtools
    • Li H, Handsaker B, Wysoker A., et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009; 25: 2078-2079
    • (2009) Bioinformatics , vol.25 , pp. 2078-2079
    • Li, H.1    Handsaker, B.2    Wysoker, A.3
  • 25
    • 77956295988 scopus 로고    scopus 로고
    • The genome analysis toolkit: A mapreduce framework for analyzing next-generation DNA sequencing data
    • McKenna A, Hanna M, Banks E., et al. The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303
    • (2010) Genome Res , vol.20 , pp. 1297-1303
    • McKenna, A.1    Hanna, M.2    Banks, E.3
  • 26
    • 20144388932 scopus 로고    scopus 로고
    • Brugada syndrome: Report of the second consensus conference
    • Antzelevitch C, Brugada P, Borggrefe M., et al. Brugada syndrome: report of the second consensus conference. Heart Rhythm 2005; 2: 429-440
    • (2005) Heart Rhythm , vol.2 , pp. 429-440
    • Antzelevitch, C.1    Brugada, P.2    Borggrefe, M.3
  • 27
    • 48249104688 scopus 로고    scopus 로고
    • Tandem Analysis of CLCN1 and SCN4A Greatly Enhances Mutation Detection in Families with Non-dystrophic Myotonia
    • Trip J, Drost G, Verbove DJ., et al. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. Eur J Hum Genet 2008; 16: 921-929
    • (2008) Eur J Hum Genet , vol.16 , pp. 921-929
    • Trip, J.1    Drost, G.2    Verbove, D.J.3
  • 28
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG., et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell 1992; 68: 799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 29
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner JP, Barron LH, Goudie D., et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J Med Genet 1996; 33: 1022-1026
    • (1996) J Med Genet , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3
  • 30
    • 2542419444 scopus 로고    scopus 로고
    • Prevalence and prognosis of subjects with Brugada-type ECG pattern in a young and middle-Aged Finnish population
    • Junttila MJ, Raatikainen MJ, Karjalainen J, Kauma H, Kesäniemi YA, Huikuri HV. Prevalence and prognosis of subjects with Brugada-type ECG pattern in a young and middle-Aged Finnish population. Eur Heart J 2004; 25: 874-878
    • (2004) Eur Heart J , vol.25 , pp. 874-878
    • Junttila, M.J.1    Raatikainen, M.J.2    Karjalainen, J.3    Kauma, H.4    Kesäniemi, Y.A.5    Huikuri, H.V.6
  • 31
    • 77956220974 scopus 로고    scopus 로고
    • Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome
    • Gui J, Wang T, Jones RP, Trump D, Zimmer T, Lei M: Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One 2010; 5: e10985
    • (2010) PLoS One , vol.5 , pp. e10985
    • Gui, J.1    Wang, T.2    Jones, R.P.3    Trump, D.4    Zimmer, T.5    Lei, M.6
  • 32
    • 55949096477 scopus 로고    scopus 로고
    • Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel
    • Zhang Y, Wang T, Ma A., et al. Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. Acta Physiol (Oxf) 2008; 194: 311-323
    • (2008) Acta Physiol (Oxf , vol.194 , pp. 311-323
    • Zhang, Y.1    Wang, T.2    Ma, A.3
  • 33
    • 0028959895 scopus 로고
    • Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?
    • Baquero JL, Ayala RA, Wang J., et al. Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?. Ann Neurol 1995; 37: 408-411
    • (1995) Ann Neurol , vol.37 , pp. 408-411
    • Baquero, J.L.1    Ayala, R.A.2    Wang, J.3
  • 34
    • 46149083720 scopus 로고    scopus 로고
    • Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis
    • Xiuhai G, Weiping W, Ke Z, Hongbin W, Yiling S, Yanling M: Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis. Cell Mol Neurobiol 2008; 28: 653-661
    • (2008) Cell Mol Neurobiol , vol.28 , pp. 653-661
    • Xiuhai, G.1    Weiping, W.2    Ke, Z.3    Hongbin, W.4    Yiling, S.5    Yanling, M.6
  • 35
    • 0030818826 scopus 로고    scopus 로고
    • A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism
    • Green DS, Hayward LJ, George Jr AL, Cannon SC: A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism. Ann Neurol 1997; 42: 253-256
    • (1997) Ann Neurol , vol.42 , pp. 253-256
    • Green, D.S.1    Hayward, L.J.2    George, A.L.3    Cannon, S.C.4
  • 36
    • 0037264170 scopus 로고    scopus 로고
    • Overview of the voltage-gated sodium channel family
    • Yu FH, Catterall WA. Overview of the voltage-gated sodium channel family. Genome Biol 2003; 4: 207
    • (2003) Genome Biol , vol.4 , pp. 207
    • Yu, F.H.1    Catterall, W.A.2
  • 37
    • 78650451511 scopus 로고    scopus 로고
    • Expression of skeletal muscle sodium channel (Nav1.4) or connexin32 prevents reperfusion arrhythmias in murine heart
    • Anyukhovsky EP, Sosunov EA, Kryukova YN., et al. Expression of skeletal muscle sodium channel (Nav1.4) or connexin32 prevents reperfusion arrhythmias in murine heart. Cardiovasc Res 2011; 89: 41-50
    • (2011) Cardiovasc Res , vol.89 , pp. 41-50
    • Anyukhovsky, E.P.1    Sosunov, E.A.2    Kryukova, Y.N.3
  • 38
    • 77956180252 scopus 로고    scopus 로고
    • The pathophysiological mechanism underlying Brugada syndrome: Depolarization versus repolarization
    • Wilde AA, Postema PG, Di Diego JM., et al. The pathophysiological mechanism underlying Brugada syndrome: depolarization versus repolarization. J Mol Cell Cardiol 2010; 49: 543-553
    • (2010) J Mol Cell Cardiol , vol.49 , pp. 543-553
    • Wilde, A.A.1    Postema, P.G.2    Di Diego, J.M.3
  • 39
    • 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: 367-378
    • (2005) Cardiovasc Res , vol.67 , pp. 367-378
    • Meregalli, P.G.1    Wilde, A.A.2    Tan, H.L.3
  • 40
    • 79954578382 scopus 로고    scopus 로고
    • Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel
    • Wilde AA, Brugada R: Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel. Circ Res 2011; 108: 884-897
    • (2011) Circ Res , vol.108 , pp. 884-897
    • Wilde, A.A.1    Brugada, R.2
  • 41
    • 43049105386 scopus 로고    scopus 로고
    • Cardiac sodium channel overlap syndromes: Different faces of SCN5A mutations
    • Remme CA, Wilde AA, Bezzina CR. Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. Trends Cardiovasc Med 2008; 18: 78-87
    • (2008) Trends Cardiovasc Med , vol.18 , pp. 78-87
    • Remme, C.A.1    Wilde, A.A.2    Bezzina, C.R.3
  • 42
    • 0030815221 scopus 로고    scopus 로고
    • A novel muscle sodium channel mutation causes painful congenital myotonia
    • Rosenfeld J, Sloan-Brown K, George Jr AL: A novel muscle sodium channel mutation causes painful congenital myotonia. Ann Neurol 1997; 42: 811-814
    • (1997) Ann Neurol , vol.42 , pp. 811-814
    • Rosenfeld, J.1    Sloan-Brown, K.2    George, A.L.3
  • 43
    • 34147179031 scopus 로고    scopus 로고
    • Efficacy of propafenone in paramyotonia congenita
    • Alfonsi E, Merlo IM, Tonini M., et al. Efficacy of propafenone in paramyotonia congenita. Neurology 2007; 68: 1080-1081
    • (2007) Neurology , vol.68 , pp. 1080-1081
    • Alfonsi, E.1    Merlo, I.M.2    Tonini, M.3
  • 44
    • 84866919087 scopus 로고    scopus 로고
    • Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: A randomized controlled trial
    • Statland JM, Bundy BN, Wang Y., et al. Mexiletine for symptoms and signs of myotonia in nondystrophic myotonia: a randomized controlled trial. JAMA 2012; 308: 1357-1365
    • (2012) JAMA , vol.308 , pp. 1357-1365
    • Statland, J.M.1    Bundy, B.N.2    Wang, Y.3
  • 45
    • 84866001450 scopus 로고    scopus 로고
    • Mexiletine differentially restores the trafficking defects caused by two Brugada syndrome mutations
    • Moreau A, Keller DI, Huang H., et al. Mexiletine differentially restores the trafficking defects caused by two Brugada syndrome mutations. Front Pharmacol 2012; 3: 62
    • (2012) Front Pharmacol , vol.3 , pp. 62
    • Moreau, A.1    Keller, D.I.2    Huang, H.3
  • 47
    • 65749107143 scopus 로고    scopus 로고
    • Phenomics of cardiac chloride channels: The systematic study of chloride channel function in the heart
    • Duan D: Phenomics of cardiac chloride channels: the systematic study of chloride channel function in the heart. J Physiol 2009; 587: 2163-2177
    • (2009) J Physiol , vol.587 , pp. 2163-2177
    • Duan, D.1
  • 48
    • 84876251947 scopus 로고    scopus 로고
    • Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy
    • Chen TT, Klassen TL, Goldman AM, Marini C, Guerrini R, Noebels JL. Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy. Neurology 2013; 80: 1078-1085
    • (2013) Neurology , vol.80 , pp. 1078-1085
    • Chen, T.T.1    Klassen, T.L.2    Goldman, A.M.3    Marini, C.4    Guerrini, R.5    Noebels, J.L.6
  • 49
    • 84889887414 scopus 로고    scopus 로고
    • Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1
    • Wahbi K, Algalarrondo V, Bécane HM., et al. Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1. Arch Cardiovasc Dis 2013; 106: 635-643
    • (2013) Arch Cardiovasc Dis , vol.106 , pp. 635-643
    • Wahbi, K.1    Algalarrondo, V.2    Bécane, H.M.3
  • 50
    • 84920716898 scopus 로고    scopus 로고
    • Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1
    • Pambrun T, Bortone A, Bois P., et al. Unmasked Brugada pattern by ajmaline challenge in patients with myotonic dystrophy type 1. Ann Noninvasive Electrocardiol 2015; 20: 28-36
    • (2015) Ann Noninvasive Electrocardiol , vol.20 , pp. 28-36
    • Pambrun, T.1    Bortone, A.2    Bois, P.3
  • 51
    • 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, Casini S, Koopmann TT., 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: 2769-2777
    • (2005) Circulation , vol.112 , pp. 2769-2777
    • Coronel, R.1    Casini, S.2    Koopmann, T.T.3
  • 52
    • 0036085796 scopus 로고    scopus 로고
    • Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: Initial results
    • Vignaux O, Lazarus A, Varin J., et al. Right ventricular MR abnormalities in myotonic dystrophy and relationship with intracardiac electrophysiologic test findings: initial results. Radiology 2002; 224: 231-235
    • (2002) Radiology , vol.224 , pp. 231-235
    • Vignaux, O.1    Lazarus, A.2    Varin, J.3
  • 53
    • 77449091606 scopus 로고    scopus 로고
    • SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
    • Probst V, Wilde AA, Barc J., et al. SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2009; 2: 552-557
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 552-557
    • Probst, V.1    Wilde, A.A.2    Barc, J.3
  • 54
    • 84883461171 scopus 로고    scopus 로고
    • 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., et al. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 2013; 45: 1044-1049
    • (2013) Nat Genet , vol.45 , pp. 1044-1049
    • Bezzina, C.R.1    Barc, J.2    Mizusawa, Y.3
  • 55
    • 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 CR, Rook MB, Groenewegen WA., 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 2003; 92: 159-168
    • (2003) Circ Res , vol.92 , pp. 159-168
    • Bezzina, C.R.1    Rook, M.B.2    Groenewegen, W.A.3
  • 57
    • 84926104165 scopus 로고    scopus 로고
    • Cardiac sodium channel mutations: Why so many phenotypes?
    • Liu M, Yang KC, Dudley Jr SC. Cardiac sodium channel mutations: why so many phenotypes?. Nat Rev Cardiol 2014; 11: 607-615
    • (2014) Nat Rev Cardiol , vol.11 , pp. 607-615
    • Liu, M.1    Yang, K.C.2    Dudley, S.C.3
  • 58
    • 84901639027 scopus 로고    scopus 로고
    • Reduced penetrance and variable expression of SCN5A mutations and the importance of co-inherited genetic variants: Case report and review of the literature
    • Robyns T, Nuyens D, Van Casteren L., et al. Reduced penetrance and variable expression of SCN5A mutations and the importance of co-inherited genetic variants: case report and review of the literature. Indian Pacing Electrophysiol J 2014; 14: 133-149
    • (2014) Indian Pacing Electrophysiol J , vol.14 , pp. 133-149
    • Robyns, T.1    Nuyens, D.2    Van Casteren, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.