메뉴 건너뛰기




Volumn 25, Issue 3, 2010, Pages 210-215

Genetics of Brugada syndrome

Author keywords

Brugada syndrome; Genetics; Sudden cardiac death

Indexed keywords

ANKYRIN; SODIUM CHANNEL NAV1.5;

EID: 77952241260     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/HCO.0b013e32833846ee     Document Type: Review
Times cited : (32)

References (65)
  • 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;20:1391-1396.
    • (1992) J. Am. Coll. Cardiol. , vol.20 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 2
    • 0027815673 scopus 로고
    • Recurrent ventricular fibrillation, right bundle-branch block and persistent ST segment elevation in V1-V3: A new arrhythmia syndrome? A clinical case report
    • Proclemer A, Facchin D, Feruglio GA, Nucifora R. Recurrent ventricular fibrillation, right bundle-branch block and persistent ST segment elevation in V1-V3: a new arrhythmia syndrome? A clinical case report. G Ital Cardiol 1993;23:1211-1218.
    • (1993) G Ital Cardiol. , vol.23 , pp. 1211-1218
    • Proclemer, A.1    Facchin, D.2    Feruglio, G.A.3    Nucifora, R.4
  • 3
    • 0027948937 scopus 로고
    • Primary ventricular fibrillation and early recurrence: Apropos of a case of association of right bundle branch block and persistent ST segment elevation
    • Ferracci A, Fromer M, Schlapfer J, et al. Primary ventricular fibrillation and early recurrence: apropos of a case of association of right bundle branch block and persistent ST segment elevation. Arch Mal Coeur Vaiss 1994;87:1359-1362.
    • (1994) Arch. Mal Coeur Vaiss , vol.87 , pp. 1359-1362
    • Ferracci, A.1    Fromer, M.2    Schlapfer, J.3
  • 4
    • 0030942181 scopus 로고    scopus 로고
    • Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death
    • Brugada J, Brugada P. Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death. J Cardiovasc Electrophysiol 1997;8:325-331.
    • (1997) J. Cardiovasc. Electrophysiol , vol.8 , pp. 325-331
    • Brugada, J.1    Brugada, P.2
  • 5
    • 0032502026 scopus 로고    scopus 로고
    • Right bundle-branch 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 bundle-branch block and ST-segment elevation in leads V1 through V3: a marker for sudden death in patients without demonstrable structural heart disease. Circulation 1998;97:457-460.
    • (1998) Circulation , vol.97 , pp. 457-460
    • Brugada, J.1    Brugada, R.2    Brugada, P.3
  • 6
    • 0033537470 scopus 로고    scopus 로고
    • 'Brugada' syndrome: Clinical data and suggested pathophysiological mechanism
    • Alings M, Wilde A. 'Brugada' syndrome: clinical data and suggested pathophysiological mechanism. Circulation 1999;99:666-673.
    • (1999) Circulation , vol.99 , pp. 666-673
    • Alings, M.1    Wilde, A.2
  • 7
    • 0034649298 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families
    • Priori SG, Napolitano C, Gasparini M, et al. Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: a prospective evaluation of 52 families. Circulation 2000;102:2509-2515.
    • (2000) Circulation , vol.102 , pp. 2509-2515
    • Priori, S.G.1    Napolitano, C.2    Gasparini, M.3
  • 8
    • 0034114156 scopus 로고    scopus 로고
    • 3 and sudden death
    • DOI 10.1053/euhj.1999.1751
    • Brugada P, Brugada R, Brugada J. Sudden death in patients and relatives with the syndrome of right bundle branch block, ST segment elevation in the precordial leads V (1) to V (3) and sudden death. Eur Heart J 2000;21:321-326. (Pubitemid 30148304)
    • (2000) European Heart Journal , vol.21 , Issue.4 , pp. 321-326
    • Brugada, P.1    Brugada, R.2    Brugada, J.3
  • 9
    • 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;392:293-296.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 10
    • 0032741905 scopus 로고    scopus 로고
    • Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    • Dumaine R, Towbin JA, Brugada P, et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999;85:803-809.
    • (1999) Circ. Res. , vol.85 , pp. 803-809
    • Dumaine, R.1    Towbin, J.A.2    Brugada, P.3
  • 11
    • 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;100:1660-1666.
    • (1999) Circulation , vol.100 , pp. 1660-1666
    • Yan, G.X.1    Antzelevitch, C.2
  • 12
    • 0342827876 scopus 로고    scopus 로고
    • Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
    • Rook MB, Bezzina Alshinawi C, Groenewegen WA, et al. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc Res 1999;44:507-517.
    • (1999) Cardiovasc. Res. , vol.44 , pp. 507-517
    • Rook, M.B.1    Alshinawi, C.B.2    Groenewegen, W.A.3
  • 13
    • 0343819791 scopus 로고    scopus 로고
    • Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes
    • Deschenes I, Baroudi G, Berthet M, et al. Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res 2000;46:55-65.
    • (2000) Cardiovasc. Res. , vol.46 , pp. 55-65
    • Deschenes, I.1    Baroudi, G.2    Berthet, M.3
  • 15
    • 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, Brugada J, Antzelevitch C, 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;101:510-515.
    • (2000) Circulation , vol.101 , pp. 510-515
    • Brugada, R.1    Brugada, J.2    Antzelevitch, C.3
  • 16
    • 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, et al. Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111:659-670.
    • (2005) Circulation , vol.111 , pp. 659-670
    • Antzelevitch, C.1    Brugada, P.2    Borggrefe, M.3
  • 17
    • 34247212362 scopus 로고    scopus 로고
    • Clinical aspects and prognosis of Brugada syndrome in children
    • Probst V, Denjoy I, Meregalli PG, et al. Clinical aspects and prognosis of Brugada syndrome in children. Circulation 2007;115:2042-2048.
    • (2007) Circulation , vol.115 , pp. 2042-2048
    • Probst, V.1    Denjoy, I.2    Meregalli, P.G.3
  • 18
    • 33750084444 scopus 로고    scopus 로고
    • The full stomach test as a novel diagnostic technique for identifying patients at risk of Brugada syndrome
    • Ikeda T, Abe A, Yusu S, et al. The full stomach test as a novel diagnostic technique for identifying patients at risk of Brugada syndrome. J Cardiovasc Electrophysiol 2006;17:602-607.
    • (2006) J. Cardiovasc. Electrophysiol , vol.17 , pp. 602-607
    • Ikeda, T.1    Abe, A.2    Yusu, S.3
  • 19
    • 0034775746 scopus 로고    scopus 로고
    • Aborted sudden death, transient Brugada pattern, and wide QRS dysrrhythmias after massive cocaine ingestion
    • Ortega-Carnicer J, Bertos-Polo J, Gutierrez-Tirado C. Aborted sudden death, transient Brugada pattern, and wide QRS dysrrhythmias after massive cocaine ingestion. J Electrocardiol 2001;34:345-349.
    • (2001) J. Electrocardiol , vol.34 , pp. 345-349
    • Ortega-Carnicer, J.1    Bertos-Polo, J.2    Gutierrez-Tirado, C.3
  • 20
    • 0033890788 scopus 로고    scopus 로고
    • Brugada-type electrocardiographic pattern induced by cocaine
    • Littmann L, Monroe MH, Svenson RH. Brugada-type electrocardiographic pattern induced by cocaine. Mayo Clin Proc 2000;75:845-849.
    • (2000) Mayo Clin. Proc. , vol.75 , pp. 845-849
    • Littmann, L.1    Monroe, M.H.2    Svenson, R.H.3
  • 21
    • 33747815051 scopus 로고    scopus 로고
    • Genetic and biophysical basis for bupivacaine-induced STsegment elevation and VT/VF. Anesthesia unmasked Brugada syndrome
    • Vernooy K, Sicouri S, Dumaine R, et al. Genetic and biophysical basis for bupivacaine-induced STsegment elevation and VT/VF. Anesthesia unmasked Brugada syndrome. Heart Rhythm 2006;3:1074-1078.
    • (2006) Heart Rhythm , vol.3 , pp. 1074-1078
    • Vernooy, K.1    Sicouri, S.2    Dumaine, R.3
  • 22
    • 22144460519 scopus 로고    scopus 로고
    • Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing?
    • discussion 279-292
    • Priori SG, Napolitano C. Should patients with an asymptomatic Brugada electrocardiogram undergo pharmacological and electrophysiological testing? Circulation 2005;112:279-292; discussion 279-292.
    • (2005) Circulation , vol.112 , pp. 279-292
    • Priori, S.G.1    Napolitano, C.2
  • 23
    • 33748575897 scopus 로고    scopus 로고
    • ACC/AHA/ESC 2006 Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death : developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society
    • Zipes DP, Camm AJ, Borggrefe M, et al. ACC/AHA/ESC 2006 Guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death) : developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation 2006; 114: e385-e484.
    • (2006) Circulation , vol.114
    • Zipes, D.P.1    Camm, A.J.2    Borggrefe, M.3
  • 24
    • 0036471801 scopus 로고    scopus 로고
    • Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    • Vatta M, Dumaine R, Varghese G, et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 2002;11:337-345.
    • (2002) Hum Mol. Genet. , vol.11 , pp. 337-345
    • Vatta, M.1    Dumaine, R.2    Varghese, G.3
  • 25
    • 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, Eckardt L, Breithardt G, et al. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum Mutat 2003;21:651-652.
    • (2003) Hum Mutat , vol.21 , pp. 651-652
    • Schulze-Bahr, E.1    Eckardt, L.2    Breithardt, G.3
  • 26
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott JJ, Alshinawi C, Kyndt F, et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999;23:20-21.
    • (1999) Nat. Genet. , vol.23 , pp. 20-21
    • Schott, J.J.1    Alshinawi, C.2    Kyndt, F.3
  • 27
    • 33750731284 scopus 로고    scopus 로고
    • Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome
    • Cordeiro JM, Barajas-Martinez H, Hong K, et al. Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation 2006;114:2026-2033.
    • (2006) Circulation , vol.114 , pp. 2026-2033
    • Cordeiro, J.M.1    Barajas-Martinez, H.2    Hong, K.3
  • 28
    • 0038298786 scopus 로고    scopus 로고
    • A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia
    • Mok NS, Priori SG, Napolitano C, et al. A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia. J Cardiovasc Electrophysiol 2003;14:407-411.
    • (2003) J. Cardiovasc. Electrophysiol , vol.14 , pp. 407-411
    • Mok, N.S.1    Priori, S.G.2    Napolitano, C.3
  • 29
    • 0034640093 scopus 로고    scopus 로고
    • Two distinct congenital arrhythmias evoked by a multidysfunctional Na (+) channel
    • Veldkamp MW, Viswanathan PC, Bezzina C, et al. Two distinct congenital arrhythmias evoked by a multidysfunctional Na (+) channel. Circ Res 2000; 86: E91-E97.
    • (2000) Circ. Res. , vol.86
    • Veldkamp, M.W.1    Viswanathan, P.C.2    Bezzina, C.3
  • 30
    • 0037065845 scopus 로고    scopus 로고
    • Clinical and molecular heterogeneity in the Brugada syndrome: A novel gene locus on chromosome 3
    • Weiss R, Barmada MM, Nguyen T, et al. Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 2002;105:707-713.
    • (2002) Circulation , vol.105 , pp. 707-713
    • Weiss, R.1    Barmada, M.M.2    Nguyen, T.3
  • 31
    • 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;116:2260-2268.
    • (2007) Circulation , vol.116 , pp. 2260-2268
    • London, B.1    Michalec, M.2    Mehdi, H.3
  • 32
    • 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;116:2253-2259.
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3
  • 33
    • 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;118:2260-2268.
    • (2008) J. Clin. Invest. , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3
  • 34
    • 69549145477 scopus 로고    scopus 로고
    • A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
    • This report described the first mutation associated with the SCN3B gene in patients with ECG BrS
    • 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;2:270-278. This report described the first mutation associated with the SCN3B gene in patients with ECG BrS.
    • (2009) Circ. Cardiovasc. Genet. , vol.2 , pp. 270-278
    • Hu, D.1    Barajas-Martinez, H.2    Burashnikov, E.3
  • 35
    • 22544486622 scopus 로고    scopus 로고
    • Sodium channels as macromolecular complexes: Implications for inherited arrhythmia syndromes
    • Meadows LS, Isom LL Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes. Cardiovasc Res 2005;67:448-458.
    • (2005) Cardiovasc. Res. , vol.67 , pp. 448-458
    • Meadows, L.S.1    Isom, L.L.2
  • 36
    • 63349104489 scopus 로고    scopus 로고
    • Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome
    • This report described the first BrS mutation in CACNB2b resulting in a loss of function responsible for the Brugada phenotype
    • Cordeiro JM, Marieb M, Pfeiffer R, et al. Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome. J Mol Cell Cardiol 2009;46:695-703. This report described the first BrS mutation in CACNB2b resulting in a loss of function responsible for the Brugada phenotype.
    • (2009) J. Mol. Cell. Cardiol. , vol.46 , pp. 695-703
    • Cordeiro, J.M.1    Marieb, M.2    Pfeiffer, R.3
  • 37
    • 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;115:442-449.
    • (2007) Circulation , vol.115 , pp. 442-449
    • Antzelevitch, C.1    Pollevick, G.D.2    Cordeiro, J.M.3
  • 38
    • 0031281537 scopus 로고    scopus 로고
    • Distribution, splicing and glucocorticoid-induced expression of cardiac alpha 1C and alpha 1D voltage-gated Ca2+ channel mRNAs
    • Takimoto K, Li D, Nerbonne JM, Levitan ES. Distribution, splicing and glucocorticoid-induced expression of cardiac alpha 1C and alpha 1D voltage-gated Ca2+ channel mRNAs. J Mol Cell Cardiol 1997;29:3035-3042.
    • (1997) J. Mol. Cell. Cardiol. , vol.29 , pp. 3035-3042
    • Takimoto, K.1    Li, D.2    Nerbonne, J.M.3    Levitan, E.S.4
  • 39
    • 20444426877 scopus 로고    scopus 로고
    • Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    • discussion 8086-8088
    • Splawski I, Timothy KW, Decher N, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA 2005;102:8089-8096; discussion 8086-8088.
    • (2005) Proc. Natl. Acad. Sci. USA , vol.102 , pp. 8089-8096
    • Splawski, I.1    Timothy, K.W.2    Decher, N.3
  • 40
    • 2942615325 scopus 로고    scopus 로고
    • Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain
    • Van Petegem F, Clark KA, Chatelain FC, Minor DL Jr. Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain. Nature 2004;429:671-675.
    • (2004) Nature , vol.429 , pp. 671-675
    • Van Petegem, F.1    Clark, K.A.2    Chatelain, F.C.3    Minor Jr., D.L.4
  • 41
    • 29844439240 scopus 로고    scopus 로고
    • International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels
    • Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J. International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels. Pharmacol Rev 2005;57:411-425.
    • (2005) Pharmacol. Rev. , vol.57 , pp. 411-425
    • Catterall, W.A.1    Perez-Reyes, E.2    Snutch, T.P.3    Striessnig, J.4
  • 42
    • 0031800913 scopus 로고    scopus 로고
    • 2+ channels expressed in Xenopus oocytes
    • 2+ channels expressed in Xenopus oocytes. Pflugers Arch 1998;436:238-247.
    • (1998) Pflugers Arch. , vol.436 , pp. 238-247
    • Allen, T.J.1    Mikala, G.2
  • 43
    • 0036455142 scopus 로고    scopus 로고
    • Multiple determinants in voltagedependent P/Q calcium channels control their retention in the endoplasmic reticulum
    • Cornet V, Bichet D, Sandoz G, et al. Multiple determinants in voltagedependent P/Q calcium channels control their retention in the endoplasmic reticulum. Eur J Neurosci 2002;16:883-895.
    • (2002) Eur. J. Neurosci. , vol.16 , pp. 883-895
    • Cornet, V.1    Bichet, D.2    Sandoz, G.3
  • 44
    • 0035951404 scopus 로고    scopus 로고
    • MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis
    • Abbott GW, Butler MH, Bendahhou S, et al. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell 2001;104:217-231.
    • (2001) Cell. , vol.104 , pp. 217-231
    • Abbott, G.W.1    Butler, M.H.2    Bendahhou, S.3
  • 45
    • 0035947743 scopus 로고    scopus 로고
    • Do all voltage-gated potassium channels use MiRPs?
    • Abbott GW, Goldstein SA, Sesti F. Do all voltage-gated potassium channels use MiRPs? Circ Res 2001;88:981-983.
    • (2001) Circ. Res. , vol.88 , pp. 981-983
    • Abbott, G.W.1    Goldstein, S.A.2    Sesti, F.3
  • 46
    • 0042337001 scopus 로고    scopus 로고
    • MinK-related peptide 2 modulates Kv2.1 and Kv3.1 potassium channels in mammalian brain
    • McCrossan ZA, Lewis A, Panaghie G, et al. MinK-related peptide 2 modulates Kv2.1 and Kv3.1 potassium channels in mammalian brain. J Neurosci 2003;23:8077-8091.
    • (2003) J. Neurosci. , vol.23 , pp. 8077-8091
    • McCrossan, Z.A.1    Lewis, A.2    Panaghie, G.3
  • 47
    • 1542319933 scopus 로고    scopus 로고
    • MinK, MiRP1, and MiRP2 diversify Kv3.1 and Kv3.2 potassium channel gating
    • Lewis A, McCrossan ZA, Abbott GW. MinK, MiRP1, and MiRP2 diversify Kv3.1 and Kv3.2 potassium channel gating. J Biol Chem 2004;279:7884-7892.
    • (2004) J. Biol. Chem. , vol.279 , pp. 7884-7892
    • Lewis, A.1    McCrossan, Z.A.2    Abbott, G.W.3
  • 48
    • 0041821574 scopus 로고    scopus 로고
    • KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels
    • Grunnet M, Rasmussen HB, Hay-Schmidt A, et al. KCNE4 is an inhibitory subunit to Kv1.1 and Kv1.3 potassium channels. BiophysJ 2003;85:1525-1537.
    • (2003) BiophysJ , vol.85 , pp. 1525-1537
    • Grunnet, M.1    Rasmussen, H.B.2    Hay-Schmidt, A.3
  • 49
    • 22544475622 scopus 로고    scopus 로고
    • In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart
    • Bendahhou S, Marionneau C, Haurogne K, et al. In vitro molecular interactions and distribution of KCNE family with KCNQ1 in the human heart. Cardiovasc Res 2005;67:529-538.
    • (2005) Cardiovasc. Res. , vol.67 , pp. 529-538
    • Bendahhou, S.1    Marionneau, C.2    Haurogne, K.3
  • 50
    • 0036190347 scopus 로고    scopus 로고
    • Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism
    • Abbott GW, Goldstein SA. Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. FASEB J 2002;16:390-400.
    • (2002) FASEB J. , vol.16 , pp. 390-400
    • Abbott, G.W.1    Goldstein, S.A.2
  • 51
    • 56849084185 scopus 로고    scopus 로고
    • Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome
    • Identification of KCNE3 as responsible for BrS
    • Delpon E, Cordeiro JM, Nunez L, et al. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ Arrhythm Electrophysiol 2008;1:209-218. Identification of KCNE3 as responsible for BrS.
    • (2008) Circ. Arrhythm Electrophysiol , vol.1 , pp. 209-218
    • Delpon, E.1    Cordeiro, J.M.2    Nunez, L.3
  • 52
    • 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
  • 53
    • 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
  • 54
    • 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;111:341-346.
    • (2003) J. Clin. Invest. , vol.111 , pp. 341-346
    • Viswanathan, P.C.1    Benson, D.W.2    Balser, J.R.3
  • 55
    • 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;114:368-376.
    • (2006) Circulation , vol.114 , pp. 368-376
    • Poelzing, S.1    Forleo, C.2    Samodell, M.3
  • 56
    • 70350504284 scopus 로고    scopus 로고
    • Genetic modulation of brugada syndrome by a common polymorphism
    • Description of the common SCN5A variant H558R as a genetic modulator of BrS among carriers of a SCN5A mutation
    • Lizotte E, Junttila MJ, Dube MP, et al. Genetic modulation of brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009;20:1137-1141. Description of the common SCN5A variant H558R as a genetic modulator of BrS among carriers of a SCN5A mutation.
    • (2009) J. Cardiovasc. Electrophysiol , vol.20 , pp. 1137-1141
    • Lizotte, E.1    Junttila, M.J.2    Dube, M.P.3
  • 57
    • 33644872001 scopus 로고    scopus 로고
    • Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction
    • Bezzina CR, Shimizu W, Yang P, et al. Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. Circulation 2006;113:338-344.
    • (2006) Circulation , vol.113 , pp. 338-344
    • Bezzina, C.R.1    Shimizu, W.2    Yang, P.3
  • 58
    • 31744450111 scopus 로고    scopus 로고
    • The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese-American men with follow-up of three decades
    • Ito H, Yano K, Chen R, et al. The prevalence and prognosis of a Brugada-type electrocardiogram in a population of middle-aged Japanese-American men with follow-up of three decades. Am J Med Sci 2006;331:25-29.
    • (2006) Am. J. Med. Sci. , vol.331 , pp. 25-29
    • Ito, H.1    Yano, K.2    Chen, R.3
  • 59
    • 0037059852 scopus 로고    scopus 로고
    • Expression and intracellular localization of an SCN5A double mutant R1232W/T1 620M implicated in Brugada syndrome
    • Baroudi G, Acharfi S, Larouche C, Chahine M. Expression and intracellular localization of an SCN5A double mutant R1232W/T1 620M implicated in Brugada syndrome. Circ Res 2002; 90: E11-E16.
    • (2002) Circ. Res. , vol.90
    • Baroudi, G.1    Acharfi, S.2    Larouche, C.3    Chahine, M.4
  • 60
    • 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;72:1018-1019.
    • (2008) Circ. J. , vol.72 , pp. 1018-1019
    • Makita, N.1    Mochizuki, N.2    Tsutsui, H.3
  • 61
    • 61349143781 scopus 로고    scopus 로고
    • Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
    • This report proposes that the genetic cause, especially the presence of truncated proteins, may be associated with a more severe phenotype
    • 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;6:341-348. This report proposes that the genetic cause, especially the presence of truncated proteins, may be associated with a more severe phenotype.
    • (2009) Heart Rhythm , vol.6 , pp. 341-348
    • Meregalli, P.G.1    Tan, H.L.2    Probst, V.3
  • 63
    • 0037120936 scopus 로고    scopus 로고
    • Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome
    • Morita H, Kusano-Fukushima K, Nagase S, et al. Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome. J Am Coll Cardiol 2002;40:1437-1444.
    • (2002) J. Am. Coll. Cardiol. , vol.40 , pp. 1437-1444
    • Morita, H.1    Kusano-Fukushima, K.2    Nagase, S.3
  • 64
    • 2542490679 scopus 로고    scopus 로고
    • Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome
    • Bordachar P, Reuter S, Garrigue S, et al. Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome. Eur Heart J 2004;25:879-884.
    • (2004) Eur. Heart J. , vol.25 , pp. 879-884
    • Bordachar, P.1    Reuter, S.2    Garrigue, S.3
  • 65
    • 34249748767 scopus 로고    scopus 로고
    • Genetic basis of Brugada syndrome
    • Antzelevitch C. Genetic basis of Brugada syndrome. Heart Rhythm 2007;4:756-757.
    • (2007) Heart Rhythm , vol.4 , pp. 756-757
    • Antzelevitch, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.