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Volumn 46, Issue 1, 2000, Pages 55-65

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes

Author keywords

Arrhythmia (mechanisms); Long QT syndrome; Membrane currents; Na channel; Ventricular arrhythmias

Indexed keywords

SODIUM CHANNEL;

EID: 0343819791     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0008-6363(00)00006-7     Document Type: Article
Times cited : (139)

References (32)
  • 1
    • 49749174698 scopus 로고
    • Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
    • Jervell A., Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J. 54:1957;59-68.
    • (1957) Am Heart J , vol.54 , pp. 59-68
    • Jervell, A.1    Lange-Nielsen, F.2
  • 2
    • 75549109609 scopus 로고
    • Aritmie cardiache rare dell'eta' pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. (Presentazione del primo caso della letteratura pediatrica Italiana)
    • Romano C., Gemme G., Pongiglione R. Aritmie cardiache rare dell'eta' pediatrica. II. Accessi sincopali per fibrillazione ventricolare parossistica. (Presentazione del primo caso della letteratura pediatrica Italiana). Clin Pediatr. 45:1963;656-683.
    • (1963) Clin Pediatr , vol.45 , pp. 656-683
    • Romano, C.1    Gemme, G.2    Pongiglione, R.3
  • 3
    • 0000387603 scopus 로고
    • A new familial cardiac syndrome in children
    • Ward O.C. A new familial cardiac syndrome in children. J Ir Med Assoc 1964;LIV:103-106.
    • (1964) J Ir Med Assoc , vol.54 , pp. 103-106
    • Ward, O.C.1
  • 4
    • 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. 20:1992;1391-1396.
    • (1992) J Am Coll Cardiol , vol.20 , pp. 1391-1396
    • Brugada, P.1    Brugada, J.2
  • 5
    • 0031160079 scopus 로고    scopus 로고
    • The long QT syndrome
    • Schwartz P.J. The long QT syndrome. Curr Probl Cardiol. 22:1997;297-351.
    • (1997) Curr Probl Cardiol , vol.22 , pp. 297-351
    • Schwartz, P.J.1
  • 6
    • 0026666322 scopus 로고
    • Clinical aspects of the idiopathic long QT syndrome
    • Moss A.J., Robinson J.L. Clinical aspects of the idiopathic long QT syndrome. Ann NY Acad Sci. 644:1992;103-111.
    • (1992) Ann NY Acad Sci , vol.644 , pp. 103-111
    • Moss, A.J.1    Robinson, J.L.2
  • 7
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet. 12:1996;17-23.
    • (1996) Nature Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 10
    • 0033574273 scopus 로고    scopus 로고
    • Kr potassium channels with HERG and is associated with cardiac arrhythmia
    • Kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell. 97:1999;175-187.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 12
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • Schott J.J., Charpentier F., Peltier S., et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 57:1995;1114-1122.
    • (1995) Am J Hum Genet , vol.57 , pp. 1114-1122
    • Schott, J.J.1    Charpentier, F.2    Peltier, S.3
  • 13
    • 0028905566 scopus 로고
    • SCN5A mutations associated with inherited cardiac arrhythmia, long QT syndrome
    • Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with inherited cardiac arrhythmia, long QT syndrome. Cell. 80:1995;806-811.
    • (1995) Cell , vol.80 , pp. 806-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 14
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett P.B., Yazawa K., Makita N., George A.L. Jr. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 376:1995;683-685.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George A.L., Jr.4
  • 17
    • 0032572594 scopus 로고    scopus 로고
    • + channel activity through interactions between α- And β1-subunits
    • + channel activity through interactions between α- and β1-subunits. Circ Res. 83:1998;141-146.
    • (1998) Circ Res , vol.83 , pp. 141-146
    • An, R.H.1    Wang, X.L.2    Kerem, B.3
  • 18
    • 0032562192 scopus 로고    scopus 로고
    • Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel
    • Kambouris N.G., Nuss H.B., Johns D.C., Tomaselli G.F., Marban E., Balser J.R. Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. Circulation. 97:1998;640-644.
    • (1998) Circulation , vol.97 , pp. 640-644
    • Kambouris, N.G.1    Nuss, H.B.2    Johns, D.C.3    Tomaselli, G.F.4    Marban, E.5    Balser, J.R.6
  • 19
    • 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
  • 20
    • 0000289480 scopus 로고    scopus 로고
    • Human SCN5A gene mutation alter Na-current kinetics and associate with VF in patients without structural heart disease (Abstract)
    • Rook M.B., Alshinawi C., Groenewegen W.A., et al. Human SCN5A gene mutation alter Na-current kinetics and associate with VF in patients without structural heart disease (Abstract). Circulation. 98:(Suppl I):1998;I468.
    • (1998) Circulation , vol.98 , Issue.SUPPL. I , pp. 468
    • Rook, M.B.1    Alshinawi, C.2    Groenewegen, W.A.3
  • 21
    • 0026530472 scopus 로고
    • Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel
    • Gellens M.E., George A.L. Jr., Chen L., et al. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci USA. 89:1992;554-558.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 554-558
    • Gellens, M.E.1    George A.L., Jr.2    Chen, L.3
  • 22
    • 0029992905 scopus 로고    scopus 로고
    • Genomic organization of the human SCN5A gene encoding the cardiac sodium channel
    • Wang Q., Li Z., Shen J., Keating M.T. Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics. 34:1996;9-16.
    • (1996) Genomics , vol.34 , pp. 9-16
    • Wang, Q.1    Li, Z.2    Shen, J.3    Keating, M.T.4
  • 23
    • 0029871081 scopus 로고    scopus 로고
    • PCR-LIS-SSCP (Low ionic strength single-stranded conformation polymorphism) - A simple method for high-resolution allele typing of HLA-DRB1, -DQB1, and -DPB1
    • Maruya E., Saji H., Yokoyama S. PCR-LIS-SSCP (Low ionic strength single-stranded conformation polymorphism) - a simple method for high-resolution allele typing of HLA-DRB1, -DQB1, and -DPB1. Genome Res. 6:1996;51-57.
    • (1996) Genome Res , vol.6 , pp. 51-57
    • Maruya, E.1    Saji, H.2    Yokoyama, S.3
  • 24
    • 0027360771 scopus 로고
    • Panning transfected cells for electrophysiological studies
    • Margolskee R.F., McHendry-Rinde B., Horn R. Panning transfected cells for electrophysiological studies. Biotechniques. 15:1993;906-911.
    • (1993) Biotechniques , vol.15 , pp. 906-911
    • Margolskee, R.F.1    McHendry-Rinde, B.2    Horn, R.3
  • 25
    • 0027970398 scopus 로고
    • Visual identification of individual transfected cells for electrophysiology using antibody-coated beads
    • Jurman M.E., Boland L.M., Liu Y., Yellen G. Visual identification of individual transfected cells for electrophysiology using antibody-coated beads. Biotechniques. 17:1994;876-881.
    • (1994) Biotechniques , vol.17 , pp. 876-881
    • Jurman, M.E.1    Boland, L.M.2    Liu, Y.3    Yellen, G.4
  • 26
    • 0019441262 scopus 로고
    • Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
    • Hamill O.P., Marty A., Neher E., Sakmann B., Sigworth F.J. Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches. Pflügers Arch. 391:1981;85-100.
    • (1981) Pflügers Arch , vol.391 , pp. 85-100
    • Hamill, O.P.1    Marty, A.2    Neher, E.3    Sakmann, B.4    Sigworth, F.J.5
  • 27
    • 0027662214 scopus 로고
    • Structure, function and expression of voltage-dependent sodium channels
    • Kallen R.G., Cohen S.A., Barchi R.L. Structure, function and expression of voltage-dependent sodium channels. Mol Neurobiol. 7:1993;383-428.
    • (1993) Mol Neurobiol , vol.7 , pp. 383-428
    • Kallen, R.G.1    Cohen, S.A.2    Barchi, R.L.3
  • 28
    • 0029802816 scopus 로고    scopus 로고
    • CAMP-dependent phosphorylation of two sites in the α-subunit of the cardiac sodium channel
    • Murphy B.J., Rogers J., Perdichizzi A.P., Colvin A.A., Catterall W.A. cAMP-dependent phosphorylation of two sites in the α-subunit of the cardiac sodium channel. J Biol Chem. 271:1996;28837-28843.
    • (1996) J Biol Chem , vol.271 , pp. 28837-28843
    • Murphy, B.J.1    Rogers, J.2    Perdichizzi, A.P.3    Colvin, A.A.4    Catterall, W.A.5
  • 29
    • 0032741905 scopus 로고    scopus 로고
    • Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    • Dumaine R., Towbin J.A., Brugada P., et al. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res. 85:1999;803-809.
    • (1999) Circ Res , vol.85 , pp. 803-809
    • Dumaine, R.1    Towbin, J.A.2    Brugada, P.3
  • 30
    • 0031795404 scopus 로고    scopus 로고
    • ST segment elevation induced by class IC antiarrhythmic agents: Underlying electrophysiologic mechanisms and insights into drug-induced proarrhythmia
    • Krishnan S.C., Josephson M.E. ST segment elevation induced by class IC antiarrhythmic agents: underlying electrophysiologic mechanisms and insights into drug-induced proarrhythmia. J Cardiovasc Electrophysiol. 9:1998;1167-1172.
    • (1998) J Cardiovasc Electrophysiol , vol.9 , pp. 1167-1172
    • Krishnan, S.C.1    Josephson, M.E.2
  • 32
    • 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. 99:1999;666-673.
    • (1999) Circulation , vol.99 , pp. 666-673
    • Alings, M.1    Wilde, A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.