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Volumn 52, Issue 1, 2011, Pages 27-31

Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome

Author keywords

Brugada syndrome; Mutation; SCN5A

Indexed keywords

SODIUM CHANNEL NAV1.5;

EID: 79951503310     PISSN: 13492365     EISSN: 13493299     Source Type: Journal    
DOI: 10.1536/ihj.52.27     Document Type: Article
Times cited : (25)

References (32)
  • 1
    • 0026466921 scopus 로고
    • Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
    • Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992; 20: 1391-6.
    • (1992) J Am Coll Cardiol , vol.20 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 2
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998; 392: 293-6.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 3
    • 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, Michalec M, Mehdi H, et al. Mutation in glycerol-3- phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 2007; 116: 2260-8.
    • (2007) Circulation , vol.116 , pp. 2260-2268
    • London, B.1    Michalec, M.2    Mehdi, H.3
  • 4
    • 36048965546 scopus 로고    scopus 로고
    • Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome
    • Van Norstrand DW, Valdivia CR, Tester DJ, et al. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 2007; 116: 2253-9.
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3
  • 5
    • 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, Pollevick GD, Cordeiro JM, 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: 442-9.
    • (2007) Circulation , vol.115 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3
  • 6
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H, Koopmann TT, Le Scouarnec S, et al. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 2008; 118: 2260-8.
    • (2008) J Clin Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3
  • 7
    • 56849084185 scopus 로고    scopus 로고
    • Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome
    • Delpón E, Cordeiro JM, Núñez L, et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol 2008; 1: 209-18.
    • (2008) Circ Arrhythm Electrophysiol , vol.1 , pp. 209-218
    • Delpón, E.1    Cordeiro, J.M.2    Núñez, L.3
  • 8
    • 69549145477 scopus 로고    scopus 로고
    • A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
    • Hu D, Barajas-Martinez H, Burashnikov E, et al. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet 2009; 2: 270-8.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 270-278
    • Hu, D.1    Barajas-Martinez, H.2    Burashnikov, E.3
  • 9
    • 0037133593 scopus 로고    scopus 로고
    • Natural history of Brugada syndrome: Insights for risk stratification and management
    • Priori SG, Napolitano C, Gasparini M, et al. Natural history of Brugada syndrome: insights for risk stratification and management. Circulation 2002; 105: 1342-7.
    • (2002) Circulation , vol.105 , pp. 1342-1347
    • Priori, S.G.1    Napolitano, C.2    Gasparini, M.3
  • 10
    • 19944432557 scopus 로고    scopus 로고
    • Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome
    • Eckardt L, Probst V, Smits JP, et al. Long-term prognosis of individuals with right precordial ST-segment-elevation Brugada syndrome. Circulation 2005; 111: 257-63.
    • (2005) Circulation , vol.111 , pp. 257-263
    • Eckardt, L.1    Probst, V.2    Smits, J.P.3
  • 11
    • 55449089246 scopus 로고    scopus 로고
    • Fragmented QRS as a marker of conduction abnormality and a predictor of prognosis of Brugada syndrome
    • Morita H, Kusano KF, Miura D, et al. Fragmented QRS as a marker of conduction abnormality and a predictor of prognosis of Brugada syndrome. Circulation 2008; 118: 1697-704.
    • (2008) Circulation , vol.118 , pp. 1697-1704
    • Morita, H.1    Kusano, K.F.2    Miura, D.3
  • 12
    • 45749132521 scopus 로고    scopus 로고
    • The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome
    • Makita N, Behr E, Shimizu W, et al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest 2008; 118: 2219-29.
    • (2008) J Clin Invest , vol.118 , pp. 2219-2229
    • Makita, N.1    Behr, E.2    Shimizu, W.3
  • 13
    • 61349143781 scopus 로고    scopus 로고
    • Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
    • Meregalli PG, Tan HL, Probst V, et al. Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. Heart Rhythm 2009; 6: 341-8.
    • (2009) Heart Rhythm , vol.6 , pp. 341-348
    • Meregalli, P.G.1    Tan, H.L.2    Probst, V.3
  • 14
    • 74449088794 scopus 로고    scopus 로고
    • Long-term prognosis of probands with Brugada-pattern ST-elevation in leads V1-V3
    • Kamakura S, Ohe T, Nakazawa K, et al. Long-term prognosis of probands with Brugada-pattern ST-elevation in leads V1-V3. Circ Arrhythm Electrophysiol 2009; 2: 495-503.
    • (2009) Circ Arrhythm Electrophysiol , vol.2 , pp. 495-503
    • Kamakura, S.1    Ohe, T.2    Nakazawa, K.3
  • 15
    • 76649101444 scopus 로고    scopus 로고
    • Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FIN GER Brugada Syndrome Registry
    • Probst V, Veltmann C, Eckardt L, et al. Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FIN GER Brugada Syndrome Registry. Circulation 2010; 121: 635-43.
    • (2010) Circulation , vol.121 , pp. 635-643
    • Probst, V.1    Veltmann, C.2    Eckardt, L.3
  • 16
    • 0029992905 scopus 로고    scopus 로고
    • Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
    • Wang Q, Li Z, Shen J, Keating MT. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 1996; 34: 9-16.
    • (1996) Genomics , vol.34 , pp. 9-16
    • Wang, Q.1    Li, Z.2    Shen, J.3    Keating, M.T.4
  • 17
    • 0033594970 scopus 로고    scopus 로고
    • Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel
    • Wei J, Wang DW, Alings M, et al. Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation 1999; 99: 3165-71.
    • (1999) Circulation , vol.99 , pp. 3165-3171
    • Wei, J.1    Wang, D.W.2    Alings, M.3
  • 18
    • 65649105778 scopus 로고    scopus 로고
    • Phenotypic overlap of cardiac sodium channelopathies: Individual-specific or mutation-specific?
    • (Review)
    • Makita N. Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific? Circ J 2009; 73: 810-7. (Review)
    • (2009) Circ J , vol.73 , pp. 810-817
    • Makita, N.1
  • 19
    • 29144494740 scopus 로고    scopus 로고
    • Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice
    • Napolitano C, Priori SG, Schwartz PJ, et al. Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 2005; 294: 2975-80.
    • (2005) JAMA , vol.294 , pp. 2975-2980
    • Napolitano, C.1    Priori, S.G.2    Schwartz, P.J.3
  • 20
    • 7744243863 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    • Ackerman MJ, Splawski I, Makielski JC, et al. Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 2004; 1: 600-7.
    • (2004) Heart Rhythm , vol.1 , pp. 600-607
    • Ackerman, M.J.1    Splawski, I.2    Makielski, J.C.3
  • 21
    • 34247128995 scopus 로고    scopus 로고
    • Syncope due to Brugada syndrome in a young athlete
    • Esperer HD, Hoos O, Hottenrott K. Syncope due to Brugada syndrome in a young athlete. Br J Sports Med 2007; 41: 180-1.
    • (2007) Br J Sports Med , vol.41 , pp. 180-181
    • Esperer, H.D.1    Hoos, O.2    Hottenrott, K.3
  • 22
    • 35748947270 scopus 로고    scopus 로고
    • Ventricular tachycardia induced by exercise testing in a patient with Brugada syndrome
    • (Spanish)
    • García-Borbolla M, García-Borbolla R, Valenzuela LF, Trujillo F. Ventricular tachycardia induced by exercise testing in a patient with Brugada syndrome. Rev Esp Cardiol 2007; 60: 993-4. (Spanish)
    • (2007) Rev Esp Cardiol , vol.60 , pp. 993-994
    • García-Borbolla, M.1    García-Borbolla, R.2    Valenzuela, L.F.3    Trujillo, F.4
  • 23
    • 0037314358 scopus 로고    scopus 로고
    • A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
    • Viswanathan PC, Benson DW, Balser JR. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 2003; 111: 341-6.
    • (2003) J Clin Invest , vol.111 , pp. 341-346
    • Viswanathan, P.C.1    Benson, D.W.2    Balser, J.R.3
  • 24
    • 33747146463 scopus 로고    scopus 로고
    • SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    • Poelzing S, Forleo C, Samodell M, et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation 2006; 114: 368-76.
    • (2006) Circulation , vol.114 , pp. 368-376
    • Poelzing, S.1    Forleo, C.2    Samodell, M.3
  • 25
    • 70350504284 scopus 로고    scopus 로고
    • Genetic modulation of brugada syndrome by a common polymorphism
    • Lizotte E, Junttila MJ, Dube MP, et al. Genetic modulation of brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009; 20: 1137-41.
    • (2009) J Cardiovasc Electrophysiol , vol.20 , pp. 1137-1141
    • Lizotte, E.1    Junttila, M.J.2    Dube, M.P.3
  • 26
    • 20844448008 scopus 로고    scopus 로고
    • R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese
    • Hwang HW, Chen JJ, Lin YJ, et al. R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet 2005; 42: e7.
    • (2005) J Med Genet , vol.42
    • Hwang, H.W.1    Chen, J.J.2    Lin, Y.J.3
  • 27
    • 21344433631 scopus 로고    scopus 로고
    • Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    • Tan BH, Valdivia CR, Rok BA, et al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2005; 2: 741-7.
    • (2005) Heart Rhythm , vol.2 , pp. 741-747
    • Tan, B.H.1    Valdivia, C.R.2    Rok, B.A.3
  • 28
    • 3042802307 scopus 로고    scopus 로고
    • The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel
    • Wang Q, Chen S, Chen Q, et al. The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J Med Genet 2004; 41: e66.
    • (2004) J Med Genet , vol.41
    • Wang, Q.1    Chen, S.2    Chen, Q.3
  • 29
    • 33646254147 scopus 로고    scopus 로고
    • Nav1.5/ R1193Q polymorphism is associated with both long QT and Brugada syndromes
    • Huang H, Zhao J, Barrane FZ, Champagne J, Chahine M. Nav1.5/ R1193Q polymorphism is associated with both long QT and Brugada syndromes. Can J Cardiol 2006; 22: 309-13.
    • (2006) Can J Cardiol , vol.22 , pp. 309-313
    • Huang, H.1    Zhao, J.2    Barrane, F.Z.3    Champagne, J.4    Chahine, M.5
  • 30
    • 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: E11-6.
    • (2002) Circ Res , vol.90
    • Baroudi, G.1    Acharfi, S.2    Larouche, C.3    Chahine, M.4
  • 31
    • 45849085710 scopus 로고    scopus 로고
    • Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome
    • Makita N, Mochizuki N, Tsutsui H. Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome. Circ J 2008; 72: 1018-9.
    • (2008) Circ J , vol.72 , pp. 1018-1019
    • Makita, N.1    Mochizuki, N.2    Tsutsui, H.3
  • 32
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.