메뉴 건너뛰기




Volumn 61, Issue 1, 2016, Pages 57-60

Genetics of Brugada syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; POTASSIUM CHANNEL; SODIUM CHANNEL;

EID: 84955464836     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.97     Document Type: Review
Times cited : (56)

References (43)
  • 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. 20, 1391-1396 (1992)
    • (1992) J. Am. Coll. Cardiol , vol.20 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 2
    • 1542347020 scopus 로고    scopus 로고
    • Brugada syndrome-An under-recognized electrical disease in patients with sudden cardiac death
    • Juang, J M., & Huang, S. K. Brugada syndrome-An under-recognized electrical disease in patients with sudden cardiac death. Cardiology 101, 157-169 (2004)
    • (2004) Cardiology , vol.101 , pp. 157-169
    • Juang, J.M.1    Huang, S.K.2
  • 3
    • 84863216842 scopus 로고    scopus 로고
    • Brugada syndrome 2012
    • Berne, P., & Brugada, J. Brugada syndrome 2012. Circ. J. 76, 1563-1571 (2012)
    • (2012) Circ. J. , vol.76 , pp. 1563-1571
    • Berne, P.1    Brugada, J.2
  • 4
    • 76649101444 scopus 로고    scopus 로고
    • Longterm prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry
    • Probst, V., Veltmann, C., Eckardt, L., Meregalli, P. G., Gaita, F., Tan, H. L., et al. Longterm prognosis of patients diagnosed with Brugada syndrome: results from the FINGER Brugada Syndrome Registry. Circulation 121, 635-643 (2010)
    • (2010) Circulation , vol.121 , pp. 635-643
    • Probst, V.1    Veltmann, C.2    Eckardt, L.3    Meregalli, P.G.4    Gaita, F.5    Tan, H.L.6
  • 6
    • 59649112851 scopus 로고    scopus 로고
    • Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy
    • Haissaguerre, M., Sacher, F., Nogami, A., Komiya, N., Bernard, A., Probst, V., et al. Characteristics of recurrent ventricular fibrillation associated with inferolateral early repolarization role of drug therapy. J. Am. Coll. Cardiol. 53, 612-619 (2009)
    • (2009) J. Am. Coll. Cardiol , vol.53 , pp. 612-619
    • Haissaguerre, M.1    Sacher, F.2    Nogami, A.3    Komiya, N.4    Bernard, A.5    Probst, V.6
  • 7
    • 84865523454 scopus 로고    scopus 로고
    • Clinical characteristics and risk of arrhythmia recurrences in patients with idiopathic ventricular fibrillation associated with early repolarization
    • Watanabe, H., Nogami, A., Ohkubo, K., Kawata, H., Hayashi, Y., Ishikawa, T., et al. Clinical characteristics and risk of arrhythmia recurrences in patients with idiopathic ventricular fibrillation associated with early repolarization. Int. J. Cardiol. 159, 238-240 (2012)
    • (2012) Int. J. Cardiol , vol.159 , pp. 238-240
    • Watanabe, H.1    Nogami, A.2    Ohkubo, K.3    Kawata, H.4    Hayashi, Y.5    Ishikawa, T.6
  • 8
    • 31444441326 scopus 로고    scopus 로고
    • The Brugada syndrome-An update
    • Shimizu, W. The Brugada syndrome-An update. Intern. Med. (Tokyo, Japan) 44, 1224-1231 (2005)
    • (2005) Intern. Med. (Tokyo, Japan) , vol.44 , pp. 1224-1231
    • Shimizu, W.1
  • 9
    • 13444300924 scopus 로고    scopus 로고
    • Brugada syndrome: Report of the second consensus conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
    • Antzelevitch, C., Brugada, P., Borggrefe, M., Brugada, J., Brugada, R., Corrado, D., et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111, 659-670 (2005)
    • (2005) Circulation , vol.111 , pp. 659-670
    • Antzelevitch, C.1    Brugada, P.2    Borggrefe, M.3    Brugada, J.4    Brugada, R.5    Corrado, D.6
  • 10
    • 84860169757 scopus 로고    scopus 로고
    • Antzelevitch C. Genetic molecular and cellular mechanisms underlying the J wave syndromes
    • Antzelevitch, C. Genetic, molecular and cellular mechanisms underlying the J wave syndromes. Circ. J. 76, 1054-1065 (2012)
    • (2012) Circ. J. , vol.76 , pp. 1054-1065
  • 12
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen, Q., Kirsch, G. E., Zhang, D., Brugada, R., Brugada, J., Brugada, P., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392, 293-296 (1998)
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3    Brugada, R.4    Brugada, J.5    Brugada, P.6
  • 13
    • 84867081985 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: Implications for genetic testing
    • Crotti, L., Marcou, C. A., Tester, D. J., Castelletti, S., Giudicessi, J. R., Torchio, M., et al. Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J. Am. Coll. Cardiol. 60, 1410-1418 (2012)
    • (2012) J. Am. Coll. Cardiol , vol.60 , pp. 1410-1418
    • Crotti, L.1    Marcou, C.A.2    Tester, D.J.3    Castelletti, S.4    Giudicessi, J.R.5    Torchio, M.6
  • 14
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J. J., et al. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118, 2260-2268 (2008)
    • (2008) J. Clin. Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3    Yang, T.4    Ingram, C.R.5    Schott, J.J.6
  • 15
    • 84879410269 scopus 로고    scopus 로고
    • A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome
    • Riuro, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Verges, M., et al. A missense mutation in the sodium channel beta2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome. Hum. Mutat. 34, 961-966 (2013)
    • (2013) Hum. Mutat , vol.34 , pp. 961-966
    • Riuro, H.1    Beltran-Alvarez, P.2    Tarradas, A.3    Selga, E.4    Campuzano, O.5    Verges, M.6
  • 16
    • 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., Springer, M., Wu, Y., Varro, A., et al. A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2, 270-278 (2009)
    • (2009) Circ. Cardiovasc. Genet , vol.2 , pp. 270-278
    • Hu, D.1    Barajas-Martinez, H.2    Burashnikov, E.3    Springer, M.4    Wu, Y.5    Varro, A.6
  • 17
    • 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, D. W., Valdivia, C. R., Tester, D. J., Ueda, K., London, B., Makielski, J. C., et al. Molecular and functional characterization of novel glycerol-3- phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation 116, 2253-2259 (2007)
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3    Ueda, K.4    London, B.5    Makielski, J.C.6
  • 19
    • 84873856880 scopus 로고    scopus 로고
    • A novel disease gene for Brugada syndrome: Sarcolemmal membrane-Associated protein gene mutations impair intracellular trafficking of hNav1.5
    • Ishikawa, T., Sato, A., Marcou, C. A., Tester, D. J., Ackerman, M. J., Crotti, L., et al. A novel disease gene for Brugada syndrome: sarcolemmal membrane-Associated protein gene mutations impair intracellular trafficking of hNav1.5. Circ. Arrhythm. Electrophysiol. 5, 1098-1107 (2012)
    • (2012) Circ. Arrhythm. Electrophysiol , vol.5 , pp. 1098-1107
    • Ishikawa, T.1    Sato, A.2    Marcou, C.A.3    Tester, D.J.4    Ackerman, M.J.5    Crotti, L.6
  • 20
    • 84896749603 scopus 로고    scopus 로고
    • Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype
    • Cerrone, M., Lin, X., Zhang, M., Agullo-Pascual, E., Pfenniger, A., Chkourko Gusky, H., et al. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. Circulation 129, 1092-1103 (2014)
    • (2014) Circulation , vol.129 , pp. 1092-1103
    • Cerrone, M.1    Lin, X.2    Zhang, M.3    Agullo-Pascual, E.4    Pfenniger, A.5    Chkourko Gusky, H.6
  • 21
    • 84870570379 scopus 로고    scopus 로고
    • Brugada syndrome
    • Veerakul, G., & Nademanee, K. Brugada syndrome. Circ. J. 76, 2713-2722 (2012)
    • (2012) Circ. J. , vol.76 , pp. 2713-2722
    • Veerakul, G.1    Nademanee, K.2
  • 22
    • 84881290116 scopus 로고    scopus 로고
    • Genetic biomarkers in Brugada syndrome
    • Li, A., Saba, M M., & Behr, E. R. Genetic biomarkers in Brugada syndrome. Biomarkers Med. 7, 535-546 (2013)
    • (2013) Biomarkers Med , vol.7 , pp. 535-546
    • Li, A.1    Saba, M.M.2    Behr, E.R.3
  • 24
    • 84866651094 scopus 로고    scopus 로고
    • Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na v)1.5 alpha-subunits
    • Clatot, J., Ziyadeh-Isleem, A., Maugenre, S., Denjoy, I., Liu, H., Dilanian, G., et al. Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na (v)1.5 alpha-subunits. Cardiovasc. Res. 96, 53-63 (2012)
    • (2012) Cardiovasc. Res , vol.96 , pp. 53-63
    • Clatot, J.1    Ziyadeh-Isleem, A.2    Maugenre, S.3    Denjoy, I.4    Liu, H.5    Dilanian, G.6
  • 25
    • 84930331925 scopus 로고    scopus 로고
    • Role of common and rare variants in SCN10A: Results from the Brugada syndrome QRS locus gene discovery collaborative study
    • Behr, E. R., Savio-Galimberti, E., Barc, J., Holst, A. G., Petropoulou, E., Prins, B. P., et al. Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. Cardiovasc. Res. 106, 520-529 (2015)
    • (2015) Cardiovasc. Res , vol.106 , pp. 520-529
    • Behr, E.R.1    Savio-Galimberti, E.2    Barc, J.3    Holst, A.G.4    Petropoulou, E.5    Prins, B.P.6
  • 26
  • 28
    • 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, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., 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 15, 442-449 (2007)
    • (2007) Circulation , vol.15 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3    Casis, O.4    Sanguinetti, M.C.5    Aizawa, Y.6
  • 29
    • 84879365398 scopus 로고    scopus 로고
    • L-type calcium channel mutations in Japanese patients with inherited arrhythmias
    • Fukuyama, M., Ohno, S., Wang, Q., Kimura, H., Makiyama, T., Itoh, H., et al. L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ. J. 77, 1799-1806 (2013)
    • (2013) Circ. J. , vol.77 , pp. 1799-1806
    • Fukuyama, M.1    Ohno, S.2    Wang, Q.3    Kimura, H.4    Makiyama, T.5    Itoh, H.6
  • 30
    • 78650088297 scopus 로고    scopus 로고
    • Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death
    • Burashnikov, E., Pfeiffer, R., Barajas-Martinez, H., Delpon, E., Hu, D., Desai, M., et al. Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm 7, 1872-1882 (2010)
    • (2010) Heart Rhythm , vol.7 , pp. 1872-1882
    • Burashnikov, E.1    Pfeiffer, R.2    Barajas-Martinez, H.3    Delpon, E.4    Hu, D.5    Desai, M.6
  • 31
    • 84897094817 scopus 로고    scopus 로고
    • Nonsensemediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome
    • Fukuyama, M., Ohno, S., Wang, Q., Shirayama, T., Itoh, H., & Horie, M. Nonsensemediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome. Heart Rhythm 11, 629-634 (2014)
    • (2014) Heart Rhythm , vol.11 , pp. 629-634
    • Fukuyama, M.1    Ohno, S.2    Wang, Q.3    Shirayama, T.4    Itoh, H.5    Horie, M.6
  • 33
    • 27644573433 scopus 로고    scopus 로고
    • Role of sequence variations in the human ether-A-go-go-related gene (HERG, KCNH2) in the Brugada syndrome
    • Verkerk, A. O., Wilders, R., Schulze-Bahr, E., Beekman, L., Bhuiyan, Z. A., Bertrand, J., et al. Role of sequence variations in the human ether-A-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. Cardiovasc. Res. 68, 441-453 (2005)
    • (2005) Cardiovasc. Res , vol.68 , pp. 441-453
    • Verkerk, A.O.1    Wilders, R.2    Schulze-Bahr, E.3    Beekman, L.4    Bhuiyan, Z.A.5    Bertrand, J.6
  • 35
    • 77957268950 scopus 로고    scopus 로고
    • Gain-of-function mutation, S422L in the KCNJ8-encoded cardiac K ATP channel Kir6.1 as a pathogenic substrate for J wave syndromes
    • Medeiros-Domingo, A., Tan, B. H., Crotti, L., Tester, D. J., Eckhardt, L., Cuoretti, A., et al. Gain-of-function mutation, S422L, in the KCNJ8-encoded cardiac K ATP channel Kir6.1 as a pathogenic substrate for J wave syndromes. Heart Rhythm 7, 1466-1471 (2010)
    • (2010) Heart Rhythm , vol.7 , pp. 1466-1471
    • Medeiros-Domingo, A.1    Tan, B.H.2    Crotti, L.3    Tester, D.J.4    Eckhardt, L.5    Cuoretti, A.6
  • 37
    • 79959921753 scopus 로고    scopus 로고
    • Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome
    • Giudicessi, J. R., Ye, D., Tester, D. J., Crotti, L., Mugione, A., Nesterenko, V. V., et al. Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 8, 1024-1032 (2011)
    • (2011) Heart Rhythm , vol.8 , pp. 1024-1032
    • Giudicessi, J.R.1    Ye, D.2    Tester, D.J.3    Crotti, L.4    Mugione, A.5    Nesterenko, V.V.6
  • 38
    • 80052334693 scopus 로고    scopus 로고
    • KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation
    • Ohno, S., Zankov, D. P., Ding, W. G., Itoh, H., Makiyama, T., Doi, T., et al. KCNE5 (KCNE1L) variants are novel modulators of Brugada syndrome and idiopathic ventricular fibrillation. Circ. Arrhythm. Electrophysiol. 4, 352-361 (2011)
    • (2011) Circ. Arrhythm. Electrophysiol , vol.4 , pp. 352-361
    • Ohno, S.1    Zankov, D.P.2    Ding, W.G.3    Itoh, H.4    Makiyama, T.5    Doi, T.6
  • 39
    • 84905264705 scopus 로고    scopus 로고
    • Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome
    • Boczek, N. J., Ye, D., Johnson, E. K., Wang, W., Crotti, L., Tester, D. J., et al. Characterization of SEMA3A-encoded semaphorin as a naturally occurring Kv4.3 protein inhibitor and its contribution to Brugada syndrome. Circ. Res. 115, 460-469 (2014)
    • (2014) Circ. Res , vol.115 , pp. 460-469
    • Boczek, N.J.1    Ye, D.2    Johnson, E.K.3    Wang, W.4    Crotti, L.5    Tester, D.J.6
  • 41
    • 84862778065 scopus 로고    scopus 로고
    • Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8
    • Barajas-Martinez, H., Hu, D., Ferrer, T., Onetti, C. G., Wu, Y., Burashnikov, E., et al. Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. Heart Rhythm 9, 548-555 (2012)
    • (2012) Heart Rhythm , vol.9 , pp. 548-555
    • Barajas-Martinez, H.1    Hu, D.2    Ferrer, T.3    Onetti, C.G.4    Wu, Y.5    Burashnikov, E.6
  • 42
    • 33747146463 scopus 로고    scopus 로고
    • SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
    • Poelzing, S., Forleo, C., Samodell, M., Dudash, L., Sorrentino, S., Anaclerio, M., et al. SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene. Circulation (2006)114, 368-376
    • (2006) Circulation , vol.114 , pp. 368-376
    • Poelzing, S.1    Forleo, C.2    Samodell, M.3    Dudash, L.4    Sorrentino, S.5    Anaclerio, M.6
  • 43
    • 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, C. R., Barc, J., Mizusawa, Y., Remme, C. A., Gourraud, J. B., Simonet, F., 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. 45, 1044-1049 (2013)
    • (2013) Nat. Genet , vol.45 , pp. 1044-1049
    • Bezzina, C.R.1    Barc, J.2    Mizusawa, Y.3    Remme, C.A.4    Gourraud, J.B.5    Simonet, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.