메뉴 건너뛰기




Volumn 115, Issue 8, 2005, Pages 1990-1999

Inherited disorders of voltage-gated sodium channels

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED SODIUM CHANNEL;

EID: 23644433670     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI25505     Document Type: Review
Times cited : (301)

References (160)
  • 1
    • 0026490286 scopus 로고
    • Cellular and molecular biology of voltage-gated sodium channels
    • Catterall, W.A. 1992. Cellular and molecular biology of voltage-gated sodium channels [review]. Physiol. Rev. 72(Suppl. 4):S15-S48.
    • (1992) Physiol. Rev. , vol.72 , Issue.SUPPL. 4
    • Catterall, W.A.1
  • 2
    • 0033694833 scopus 로고    scopus 로고
    • From ionic currents to molecular mechanisms: The structure and function of voltage-gated sodium channels
    • Catterall, W.A. 2000. From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron. 26:13-25.
    • (2000) Neuron , vol.26 , pp. 13-25
    • Catterall, W.A.1
  • 3
    • 0034686371 scopus 로고    scopus 로고
    • Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum
    • Whitaker, W.R., et al. 2000. Distribution of voltage-gated sodium channel alpha-subunit and beta-subunit mRNAs in human hippocampal formation, cortex, and cerebellum. J. Comp. Neurol. 422:123-139.
    • (2000) J. Comp. Neurol. , vol.422 , pp. 123-139
    • Whitaker, W.R.1
  • 4
    • 0024692740 scopus 로고
    • Primary structure and functional expression of a mammalian skeletal muscle sodium channel
    • Trimmer, J.S., et al. 1989. Primary structure and functional expression of a mammalian skeletal muscle sodium channel. Neuron. 3:33-49.
    • (1989) Neuron , vol.3 , pp. 33-49
    • Trimmer, J.S.1
  • 5
    • 0026556506 scopus 로고
    • Primary structure of the adult human skeletal muscle voltage-dependent sodium channel
    • George, A.L., Komisarof, J., Kallen, R.G., and Barchi, R.L. 1992. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann. Neurol. 31:131-137.
    • (1992) Ann. Neurol. , vol.31 , pp. 131-137
    • George, A.L.1    Komisarof, J.2    Kallen, R.G.3    Barchi, R.L.4
  • 7
    • 0026530472 scopus 로고
    • Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel
    • Gellens, M.E., et al. 1992. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc. Natl. Acad. Sci. U. S. A. 89:554-558.
    • (1992) Proc. Natl. Acad. Sci. U. S. A. , vol.89 , pp. 554-558
    • Gellens, M.E.1
  • 8
    • 0037452985 scopus 로고    scopus 로고
    • An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node
    • Maier, S.K., et al. 2003. An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc. Natl. Acad. Sci. U. S. A. 100:3507-3512.
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 3507-3512
    • Maier, S.K.1
  • 9
    • 0037133689 scopus 로고    scopus 로고
    • An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart
    • Maier, S.K.G., et al. 2002. An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart. Proc. Natl. Acad. Sci. U. S. A. 99:4073-4078.
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 4073-4078
    • Maier, S.K.G.1
  • 10
    • 0024368695 scopus 로고
    • Structural parts involved in activation and inactivation of the sodium channel
    • Stühmer, W., et al. 1989, Structural parts involved in activation and inactivation of the sodium channel Nature. 339:597-603.
    • (1989) Nature , vol.339 , pp. 597-603
    • Stühmer, W.1
  • 11
    • 0030021584 scopus 로고    scopus 로고
    • Molecular basis of charge movement in voltage-gated sodium channels
    • Yang, N.B., George, A.L., Jr., and Horn, R. 1996. Molecular basis of charge movement in voltage-gated sodium channels. Neuron. 16:113-122.
    • (1996) Neuron , vol.16 , pp. 113-122
    • Yang, N.B.1    George Jr., A.L.2    Horn, R.3
  • 12
    • 0035861457 scopus 로고    scopus 로고
    • A prokaryotic voltage-gated sodium channel
    • Ren, D., et al. 2001. A prokaryotic voltage-gated sodium channel. Science. 294:2372-2375.
    • (2001) Science , vol.294 , pp. 2372-2375
    • Ren, D.1
  • 13
    • 77956707015 scopus 로고
    • Currents carried by sodium and potassium ion through the membrane of the giant axon of Loligo
    • Hodgkin, A.L., and Huxley, A.F. 1952. Currents carried by sodium and potassium ion through the membrane of the giant axon of Loligo. J. Physiol. 116:449-472.
    • (1952) J. Physiol. , vol.116 , pp. 449-472
    • Hodgkin, A.L.1    Huxley, A.F.2
  • 14
    • 0028258554 scopus 로고
    • + channels must deactivate to recover from inactivation
    • + channels must deactivate to recover from inactivation. Neuron. 12:819-829.
    • (1994) Neuron , vol.12 , pp. 819-829
    • Kuo, C.C.1    Bean, B.P.2
  • 15
    • 0035754168 scopus 로고    scopus 로고
    • Slow inactivation in voltage-gated sodium channels: Molecular substrates and contributions to channelopathies
    • Vilin, Y.Y., and Ruben, P.C. 2001. Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies. Cell Biochem. Biophys. 35:171-190.
    • (2001) Cell Biochem. Biophys. , vol.35 , pp. 171-190
    • Vilin, Y.Y.1    Ruben, P.C.2
  • 16
    • 33645168242 scopus 로고    scopus 로고
    • Pathophysiology of myotonia and periodic paralysis
    • A.K. Asbury, G.M. Mckhann, W.I. McDonald, P.J. Goadsby, and J.C. McArthur, editors. Cambridge University Press. Cambridge, United Kingdom
    • Cannon, S.C., and George, A.L. 2002. Pathophysiology of myotonia and periodic paralysis. In Diseases of the nervous system: clinical neuroscience and therapeutic principles. A.K. Asbury, G.M. Mckhann, W.I. McDonald, P.J. Goadsby, and J.C. McArthur, editors. Cambridge University Press. Cambridge, United Kingdom. 1183-1206.
    • (2002) Diseases of the Nervous System: Clinical Neuroscience and Therapeutic Principles , pp. 1183-1206
    • Cannon, S.C.1    George, A.L.2
  • 17
    • 0017326133 scopus 로고
    • The myotonic disorders and the periodic paralyses
    • Griggs, R.C. 1977. The myotonic disorders and the periodic paralyses. Adv. Neurol. 17:143-159.
    • (1977) Adv. Neurol. , vol.17 , pp. 143-159
    • Griggs, R.C.1
  • 18
    • 0023182476 scopus 로고
    • Differential diagnosis of myotonic syndromes
    • Streib, E.W. 1987. Differential diagnosis of myotonic syndromes. Muscle Nerve. 10:603-615.
    • (1987) Muscle Nerve , vol.10 , pp. 603-615
    • Streib, E.W.1
  • 19
    • 0027491539 scopus 로고
    • Genotype-phenotype correlations in human skeletal muscle sodium channel diseases
    • Rüdel, R., Ricker, K., and Lehmann-Horn, F. 1993. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch. Neurol. 50:1241-1248.
    • (1993) Arch. Neurol. , vol.50 , pp. 1241-1248
    • Rüdel, R.1    Ricker, K.2    Lehmann-Horn, F.3
  • 20
    • 0025790174 scopus 로고
    • Identification of a mutation in the gene causing hyperkalemic periodic paralysis
    • Ptacek, L.J., et al. 1991. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 67:1021-1027.
    • (1991) Cell , vol.67 , pp. 1021-1027
    • Ptacek, L.J.1
  • 21
    • 0021811103 scopus 로고
    • Membrane changes in cells from myotonia patients
    • Rüdel, R., and Lehmann-Horn, F. 1985. Membrane changes in cells from myotonia patients. Physiol. Rev. 65:310-356.
    • (1985) Physiol. Rev. , vol.65 , pp. 310-356
    • Rüdel, R.1    Lehmann-Horn, F.2
  • 22
    • 0025649547 scopus 로고
    • Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha subunit gene
    • Fontaine, B., et al. 1990, Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha subunit gene. Science. 250:1000-1002.
    • (1990) Science , vol.250 , pp. 1000-1002
    • Fontaine, B.1
  • 23
    • 0026047223 scopus 로고
    • Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus
    • Ptacek, L.J., et al. 1991. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium channel gene locus. Am. J. Hum. Genet. 49:851-854.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 851-854
    • Ptacek, L.J.1
  • 24
    • 0025872004 scopus 로고
    • Paramyotonia congenita and non-myotonic hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
    • Ebers, G.C., et al. 1991. Paramyotonia congenita and non-myotonic hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann. Neurol. 30:810-816.
    • (1991) Ann. Neurol. , vol.30 , pp. 810-816
    • Ebers, G.C.1
  • 25
    • 0025932040 scopus 로고
    • + channel α-subunit in hyperkalemic periodic paralysis
    • + channel α-subunit in hyperkalemic periodic paralysis. Nature. 354:387-389.
    • (1991) Nature , vol.354 , pp. 387-389
    • Rojas, C.V.1
  • 26
    • 0026516209 scopus 로고
    • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita
    • McClatchey, A.I., et al. 1992. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 68:769-774.
    • (1992) Cell , vol.68 , pp. 769-774
    • McClatchey, A.I.1
  • 27
    • 0026766904 scopus 로고
    • Mutations in an S4 segment of the adult skeletal muscle sodium channel gene cause paramyotonia congenita
    • Ptacek, L.J., et al. 1992. Mutations in an S4 segment of the adult skeletal muscle sodium channel gene cause paramyotonia congenita. Neuron. 8:891-897.
    • (1992) Neuron , vol.8 , pp. 891-897
    • Ptacek, L.J.1
  • 28
    • 0027468893 scopus 로고
    • Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
    • Ptacek., L.J., et al. 1993. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann. Neurol. 33:300-307.
    • (1993) Ann. Neurol. , vol.33 , pp. 300-307
    • Ptacek, L.J.1
  • 29
    • 0027991026 scopus 로고
    • Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis
    • Ptacek, L.J., et al. 1994. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 44:1500-1503.
    • (1994) Neurology , vol.44 , pp. 1500-1503
    • Ptacek, L.J.1
  • 30
    • 0027522103 scopus 로고
    • Human sodium channel myotonia: Slowed channel inactivation due to substitutions for a glycine within the III/IV linker
    • Lerche, H., et al. 1993. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III/IV linker. J. Physiol. 470:13-22.
    • (1993) J. Physiol. , vol.470 , pp. 13-22
    • Lerche, H.1
  • 32
    • 0028061597 scopus 로고
    • Myotonia fluctuans. A third type of muscle sodium channel disease
    • Ricker, K., Moxley, R.T., III, Heine, R., and Lehmann-Horn, F. 1994. Myotonia fluctuans. A third type of muscle sodium channel disease. Arch. Neurol. 51:1095-1102.
    • (1994) Arch. Neurol. , vol.51 , pp. 1095-1102
    • Ricker, K.1    Moxley III, R.T.2    Heine, R.3    Lehmann-Horn, F.4
  • 33
    • 8644259260 scopus 로고    scopus 로고
    • Correlating phenotype and genotype in the periodic paralyses
    • Miller, T.M., et al. 2004. Correlating phenotype and genotype in the periodic paralyses. Neurology. 63:1647-1655.
    • (2004) Neurology , vol.63 , pp. 1647-1655
    • Miller, T.M.1
  • 34
    • 0029016252 scopus 로고
    • Masseter muscle rigidity associated with glycine-1306 to alanine mutation in the adult muscle sodium channel α-subunit gene
    • Vita, G.M., et al. 1995. Masseter muscle rigidity associated with glycine-1306 to alanine mutation in the adult muscle sodium channel α-subunit gene. Anesthesiology. 82:1097-1103.
    • (1995) Anesthesiology , vol.82 , pp. 1097-1103
    • Vita, G.M.1
  • 35
    • 0033842533 scopus 로고    scopus 로고
    • A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
    • Bendahhou, S., et al. 2000. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J. Clin. Invest. 106:431-438.
    • (2000) J. Clin. Invest. , vol.106 , pp. 431-438
    • Bendahhou, S.1
  • 36
    • 0037794423 scopus 로고    scopus 로고
    • Myasthenic syndrome caused by mutation of the SCN4A sodium channel
    • Tsujino, A., et al. 2003. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc. Natl. Acad. Sci. U. S. A. 100:7377-7382.
    • (2003) Proc. Natl. Acad. Sci. U. S. A. , vol.100 , pp. 7377-7382
    • Tsujino, A.1
  • 37
    • 0025774566 scopus 로고
    • A sodium channel defect in hyperkalemic periodic paralysis: Potassium induced failure of inactivation
    • Cannon, S.C., Brown, R.H., and Corey, D.P. 1991. A sodium channel defect in hyperkalemic periodic paralysis: potassium induced failure of inactivation. Neuron. 6:619-626.
    • (1991) Neuron , vol.6 , pp. 619-626
    • Cannon, S.C.1    Brown, R.H.2    Corey, D.P.3
  • 38
    • 0027409755 scopus 로고
    • Functional expression of sodium channel mutations identified in families with periodic paralysis
    • Cannon, S.C., and Strittmatter, S.M. 1993. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron. 10:317-326.
    • (1993) Neuron , vol.10 , pp. 317-326
    • Cannon, S.C.1    Strittmatter, S.M.2
  • 39
    • 0020623576 scopus 로고
    • Two cases of adynamia episodica hereditaria: In vitro investigation of muscle cell membrane and contraction parameters
    • Lehmann-Horn, F., et al. 1983. Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve. 6:113-121.
    • (1983) Muscle Nerve , vol.6 , pp. 113-121
    • Lehmann-Horn, F.1
  • 40
    • 0021368321 scopus 로고
    • Hypokalemic periodic paralysis: In vitro investigation of muscle fiber membrane parameters
    • Rüdel, R., Lehmann-Horn, F., Ricker, K., and Kuther, G. 1984. Hypokalemic periodic paralysis: in vitro investigation of muscle fiber membrane parameters. Muscle Nerve. 7:110-120.
    • (1984) Muscle Nerve , vol.7 , pp. 110-120
    • Rüdel, R.1    Lehmann-Horn, F.2    Ricker, K.3    Kuther, G.4
  • 41
    • 0029976727 scopus 로고    scopus 로고
    • Impaired slow inactivation in mutant sodium channels
    • Cummins, T.R., and Sigworth, F.J. 1996. Impaired slow inactivation in mutant sodium channels. Biophys. J. 71:227-236.
    • (1996) Biophys. J. , vol.71 , pp. 227-236
    • Cummins, T.R.1    Sigworth, F.J.2
  • 42
    • 0028379446 scopus 로고
    • + sodium channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis
    • + sodium channel inactivation must be disrupted to evoke prolonged depolarization-induced paralysis. Biophys. J. 66:542-545.
    • (1994) Biophys. J. , vol.66 , pp. 542-545
    • Ruff, R.L.1
  • 43
    • 0028589331 scopus 로고
    • Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
    • Yang, N., et al. 1994. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc. Natl. Acad. Sci. U. S. A. 91:12785-12789.
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 12785-12789
    • Yang, N.1
  • 45
    • 0028128744 scopus 로고
    • +-aggravated myotonia: Destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation
    • +-aggravated myotonia: destabilization of the inactivated state of the human muscle Na+ channel by the V1589M mutation. J. Physiol. 478:395-402.
    • (1994) J. Physiol. , vol.478 , pp. 395-402
    • Mitrovic, N.1
  • 46
    • 0029131274 scopus 로고
    • Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel
    • Mitrovic, N., et al. 1995. Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel. J. Physiol. 487:107-114.
    • (1995) J. Physiol. , vol.487 , pp. 107-114
    • Mitrovic, N.1
  • 47
    • 0029926886 scopus 로고    scopus 로고
    • Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
    • Hayward, L.J., Brown, R.H., Jr., and Cannon, S.C. 1996. Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. J. Gen. Physiol. 107:559-576.
    • (1996) J. Gen. Physiol. , vol.107 , pp. 559-576
    • Hayward, L.J.1    Brown Jr., R.H.2    Cannon, S.C.3
  • 48
    • 0030998386 scopus 로고    scopus 로고
    • From mutation to myotonia in sodium channel disorders
    • Cannon, S.C. 1997. From mutation to myotonia in sodium channel disorders. Neuromuscul. Disord. 7:241-249.
    • (1997) Neuromuscul. Disord. , vol.7 , pp. 241-249
    • Cannon, S.C.1
  • 49
    • 0016166945 scopus 로고
    • On the repetitive discharge in myotonic muscle fibres
    • Adrian, R.H., and Bryant, S.H. 1974. On the repetitive discharge in myotonic muscle fibres. J. Physiol. 240:505-515.
    • (1974) J. Physiol. , vol.240 , pp. 505-515
    • Adrian, R.H.1    Bryant, S.H.2
  • 51
    • 0034444232 scopus 로고    scopus 로고
    • Therapy in myotonic disorders and in muscle channelopathies
    • Meola, G., and Sansone, V. 2000. Therapy in myotonic disorders and in muscle channelopathies [review]. Neurol. Sci. 21(Suppl. 5):S953-S961.
    • (2000) Neurol. Sci. , vol.21 , Issue.SUPPL. 5
    • Meola, G.1    Sansone, V.2
  • 52
    • 0028279432 scopus 로고
    • Paramyotonia congenita: Abnormal short exercise test, and improvement after mexiletine therapy
    • Jackson, C.E., Barohn, R.J., and Ptacek, L.J. 1994. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve. 17:763-768.
    • (1994) Muscle Nerve , vol.17 , pp. 763-768
    • Jackson, C.E.1    Barohn, R.J.2    Ptacek, L.J.3
  • 55
    • 0030815221 scopus 로고    scopus 로고
    • A novel muscle sodium channel mutation causes painful congenital myotonia
    • Rosenfeld, J., Sloan-Brown, K., and George, A.L., Jr. 1997. A novel muscle sodium channel mutation causes painful congenital myotonia. Ann. Neurol. 42:811-814.
    • (1997) Ann. Neurol. , vol.42 , pp. 811-814
    • Rosenfeld, J.1    Sloan-Brown, K.2    George Jr., A.L.3
  • 56
    • 0842344628 scopus 로고    scopus 로고
    • Different flecainide sensitivity of hNaV1.4 channels and myotonic mutants explained by state-dependent block
    • Desaphy, J.F., De Luca, A., Didonna, M.P., George, A.L., and Conte, C.D. 2003. Different flecainide sensitivity of hNaV1.4 channels and myotonic mutants explained by state-dependent block. J. Physiol. 554:321-334.
    • (2003) J. Physiol. , vol.554 , pp. 321-334
    • Desaphy, J.F.1    De Luca, A.2    Didonna, M.P.3    George, A.L.4    Conte, C.D.5
  • 57
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang, Q., et al. 1995. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 80:805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1
  • 58
    • 0029116230 scopus 로고
    • Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia
    • Wang, Q., et al. 1995. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum. Mol. Genet. 4:1603-1607.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1603-1607
    • Wang, Q.1
  • 59
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen, Q., et al. 1998, Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 392:293-296.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1
  • 60
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott, J.J., et al. 1999. Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23:20-21.
    • (1999) Nat. Genet. , vol.23 , pp. 20-21
    • Schott, J.J.1
  • 61
    • 0035931932 scopus 로고    scopus 로고
    • A sodium-channel mutation causes isolated cardiac conduction disease
    • Tan, H.L., et al. 2001. A sodium-channel mutation causes isolated cardiac conduction disease. Nature. 409:1043-1047.
    • (2001) Nature , vol.409 , pp. 1043-1047
    • Tan, H.L.1
  • 62
    • 0037154288 scopus 로고    scopus 로고
    • Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block
    • Wang, D.W., Viswanathan, P.C., Balser, J.R., George, A.L., Jr., and Benson, D.W. 2002. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation. 105:341-346.
    • (2002) Circulation , vol.105 , pp. 341-346
    • Wang, D.W.1    Viswanathan, P.C.2    Balser, J.R.3    George Jr., A.L.4    Benson, D.W.5
  • 63
    • 0033533990 scopus 로고    scopus 로고
    • + channel mutation causing both long-QT and Brugada syndromes
    • + channel mutation causing both long-QT and Brugada syndromes. Circ. Res. 85:1206-1213.
    • (1999) Circ. Res. , vol.85 , pp. 1206-1213
    • Bezzina, C.1
  • 64
    • 5644229494 scopus 로고    scopus 로고
    • SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia
    • McNair, W.P., et al. 2004. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation. 110:2163-2167.
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1
  • 65
    • 0036801529 scopus 로고    scopus 로고
    • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation
    • doi:10.1172/JCI200215570
    • Grant, A.O., et al. 2002. Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J. Clin. Invest. 110:1201-1209. doi:10.1172/JCI200215570.
    • (2002) J. Clin. Invest. , vol.110 , pp. 1201-1209
    • Grant, A.O.1
  • 66
    • 0037015231 scopus 로고    scopus 로고
    • Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation
    • Makita, N., et al. 2002. Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation. Circulation. 106:1269-1274.
    • (2002) Circulation , vol.106 , pp. 1269-1274
    • Makita, N.1
  • 67
    • 0034721235 scopus 로고    scopus 로고
    • A molecular link between the sudden infant death syndrome and the long-QT syndrome
    • Schwartz, P.J., et al. 2000. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N. Engl. J. Med. 343:262-267.
    • (2000) N. Engl. J. Med. , vol.343 , pp. 262-267
    • Schwartz, P.J.1
  • 68
    • 0035860984 scopus 로고    scopus 로고
    • Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman, M.J., et al. 2001. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 286:2264-2269.
    • (2001) JAMA , vol.286 , pp. 2264-2269
    • Ackerman, M.J.1
  • 69
    • 18544383162 scopus 로고    scopus 로고
    • Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    • Splawski, I., et al. 2002. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science. 297:1333-1336.
    • (2002) Science , vol.297 , pp. 1333-1336
    • Splawski, I.1
  • 70
    • 0030071326 scopus 로고    scopus 로고
    • The long QT syndrome. A review of recent molecular genetic and physiologic discoveries
    • Keating, M.T. 1996. The long QT syndrome. A review of recent molecular genetic and physiologic discoveries [review]. Medicine (Baltimore). 75:1-5.
    • (1996) Medicine (Baltimore) , vol.75 , pp. 1-5
    • Keating, M.T.1
  • 71
    • 0031978985 scopus 로고    scopus 로고
    • The molecular genetics of the long QT syndrome: Genes causing fainting and sudden death
    • Vincent, G.M. 1998. The molecular genetics of the long QT syndrome: genes causing fainting and sudden death. Annu. Rev. Med. 49:263-274.
    • (1998) Annu. Rev. Med. , vol.49 , pp. 263-274
    • Vincent, G.M.1
  • 72
    • 0028914969 scopus 로고
    • A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
    • Curran, M.E., et al. 1995. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 80:795-803.
    • (1995) Cell , vol.80 , pp. 795-803
    • Curran, M.E.1
  • 73
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
    • Wang, Q., et al. 1996. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat. Genet. 12:17-23.
    • (1996) Nat. Genet. , vol.12 , pp. 17-23
    • Wang, Q.1
  • 74
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • Schwartz, P.J., et al. 2001. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation. 103:89-95.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1
  • 75
    • 0028874658 scopus 로고
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 92:3381-3386.
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1
  • 76
    • 0034637507 scopus 로고    scopus 로고
    • A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome
    • Akai, J., et al. 2000. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. FEBS Lett. 479:29-34.
    • (2000) FEBS Lett. , vol.479 , pp. 29-34
    • Akai, J.1
  • 77
    • 0036471801 scopus 로고    scopus 로고
    • Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome
    • Vatta, M., et al. 2002. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum. Mol. Genet. 11:337-345.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 337-345
    • Vatta, M.1
  • 78
    • 11244315277 scopus 로고    scopus 로고
    • Linkage analyses and SCN5A mutations screening in five sudden unexplained death syndrome (Lai-tai) families
    • Sangwatanaroj, S., Yanatasneejit, P., Sunsaneewitayakul, B., and Sitthisook, S. 2002. Linkage analyses and SCN5A mutations screening in five sudden unexplained death syndrome (Lai-tai) families. J. Med. Assoc. Thai. 85(Suppl. 1):S54-S61.
    • (2002) J. Med. Assoc. Thai. , vol.85 , Issue.SUPPL. 1
    • Sangwatanaroj, S.1    Yanatasneejit, P.2    Sunsaneewitayakul, B.3    Sitthisook, S.4
  • 79
    • 0030942181 scopus 로고    scopus 로고
    • Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death
    • Brugada, J., and Brugada, P. 1997. Further characterization of the syndrome of right bundle branch block, ST segment elevation, and sudden cardiac death. J. Cardiovasc. Electrophysiol. 8:325-331.
    • (1997) J. Cardiovasc. Electrophysiol. , vol.8 , pp. 325-331
    • Brugada, J.1    Brugada, P.2
  • 80
    • 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., et al. 2000. Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts. Circulation. 101:510-515.
    • (2000) Circulation , vol.101 , pp. 510-515
    • Brugada, R.1
  • 81
    • 84944282688 scopus 로고
    • Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon
    • Baron, R.C., et al. 1983. Sudden death among Southeast Asian refugees. An unexplained nocturnal phenomenon JAMA. 250:2947-2951.
    • (1983) JAMA , vol.250 , pp. 2947-2951
    • Baron, R.C.1
  • 82
    • 0030850439 scopus 로고    scopus 로고
    • Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men
    • Nademanee, K., et al. 1997. Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation. 96:2595-2600.
    • (1997) Circulation , vol.96 , pp. 2595-2600
    • Nademanee, K.1
  • 83
    • 0035380185 scopus 로고    scopus 로고
    • Pattern of inheritance in three sudden unexplained death syndrome ("Lai-tai") families
    • Sangwatanaroj, S., Ngamchareon, C., and Prechawat, S. 2001. Pattern of inheritance in three sudden unexplained death syndrome ("Lai-tai") families. J. Med. Assoc. Thai. 84(Suppl. 1):S443-S451.
    • (2001) J. Med. Assoc. Thai. , vol.84 , Issue.SUPPL. 1
    • Sangwatanaroj, S.1    Ngamchareon, C.2    Prechawat, S.3
  • 84
    • 0037428063 scopus 로고    scopus 로고
    • A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    • Groenewegen, W.A., et al. 2003. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ. Res. 92:14-22.
    • (2003) Circ. Res. , vol.92 , pp. 14-22
    • Groenewegen, W.A.1
  • 85
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • doi:10.1172/JCI200318062
    • Benson, D.W., et al. 2003. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112:1019-1028. doi:10.1172/JCI200318062.
    • (2003) J. Clin. Invest. , vol.112 , pp. 1019-1028
    • Benson, D.W.1
  • 86
    • 0007519279 scopus 로고    scopus 로고
    • Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block
    • Lupoglazoff, J.M., et al. 2001. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ. Res. 89:E16-E21.
    • (2001) Circ. Res. , vol.89
    • Lupoglazoff, J.M.1
  • 87
    • 5444259262 scopus 로고    scopus 로고
    • A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia
    • Chang, C.C., et al. 2004. A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. Cardiovasc. Res. 64:268-278.
    • (2004) Cardiovasc. Res. , vol.64 , pp. 268-278
    • Chang, C.C.1
  • 88
    • 0035909898 scopus 로고    scopus 로고
    • Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family
    • Kyndt, F., et al. 2001. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation. 104:3081-3086.
    • (2001) Circulation , vol.104 , pp. 3081-3086
    • Kyndt, F.1
  • 89
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility co heart failure and atrial fibrillation
    • Olson, T.M., et al. 2005. Sodium channel mutations and susceptibility co heart failure and atrial fibrillation JAMA. 293:447-454.
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1
  • 90
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett, P.B., Yazawa, K., Makita, N., and George, A.L., Jr. 1995. Molecular mechanism for an inherited cardiac arrhythmia. Nature. 376:683-685.
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George Jr., A.L.4
  • 91
    • 0029988774 scopus 로고    scopus 로고
    • + channel-linked long-QT syndrome
    • + channel-linked long-QT syndrome. Circ. Res. 78:916-924.
    • (1996) Circ. Res. , vol.78 , pp. 916-924
    • Dumaine, R.1
  • 93
    • 0032562192 scopus 로고    scopus 로고
    • Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel
    • Kambouris, N.G., et al. 1998. Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel. Circulation. 97:640-644.
    • (1998) Circulation , vol.97 , pp. 640-644
    • Kambouris, N.G.1
  • 94
    • 0035853405 scopus 로고    scopus 로고
    • + channel
    • + channel. Circ. Res. 88:740-745.
    • (2001) Circ. Res. , vol.88 , pp. 740-745
    • Abriel, H.1
  • 95
    • 0033527032 scopus 로고    scopus 로고
    • Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia
    • Clancy, C.E., and Rudy, Y. 1999. Linking a genetic defect to its cellular phenotype in a cardiac arrhythmia. Nature. 400:566-569.
    • (1999) Nature , vol.400 , pp. 566-569
    • Clancy, C.E.1    Rudy, Y.2
  • 96
    • 0033379061 scopus 로고    scopus 로고
    • Transmural dispersion of repolarization and arrhythmogenicity: The Brugada syndrome versus the long QT syndrome
    • Antzelevitch, C., Yan, G.X., and Shimizu, W. 1999. Transmural dispersion of repolarization and arrhythmogenicity: the Brugada syndrome versus the long QT syndrome [review]. J. Electrocardiol. 32(Suppl.):158-165.
    • (1999) J. Electrocardiol. , vol.32 , Issue.SUPPL. , pp. 158-165
    • Antzelevitch, C.1    Yan, G.X.2    Shimizu, W.3
  • 97
    • 0034800266 scopus 로고    scopus 로고
    • Abrupt rate acceletations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome
    • Nuyens, D., et al. 2001. Abrupt rate acceletations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome. Nat. Med. 7:1021-1027.
    • (2001) Nat. Med. , vol.7 , pp. 1021-1027
    • Nuyens, D.1
  • 98
    • 0032879716 scopus 로고    scopus 로고
    • Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated wich ST-segment elevation
    • Yan, G.X., and Antzelevitch, C. 1999. Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated wich ST-segment elevation. Circulation. 100:1660-1666.
    • (1999) Circulation , vol.100 , pp. 1660-1666
    • Yan, G.X.1    Antzelevitch, C.2
  • 99
    • 0032946601 scopus 로고    scopus 로고
    • Ion channels and ventricular arrhythmias: Cellular and ionic mechanisms underlying the Brugada syndrome
    • Antzelevitch, C. 1999. Ion channels and ventricular arrhythmias: cellular and ionic mechanisms underlying the Brugada syndrome. Curr. Opin. Cardiol. 14:274-279.
    • (1999) Curr. Opin. Cardiol. , vol.14 , pp. 274-279
    • Antzelevitch, C.1
  • 100
    • 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., et al. 2003. Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum. Mutat. 21:651-652.
    • (2003) Hum. Mutat. , vol.21 , pp. 651-652
    • Schulze-Bahr, E.1
  • 101
    • 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., and Chahine, M. 2002. Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ. Res. 90:E11-E16.
    • (2002) Circ. Res. , vol.90
    • Baroudi, G.1    Acharfi, S.2    Larouche, C.3    Chahine, M.4
  • 102
    • 0035933766 scopus 로고    scopus 로고
    • Novel mechanism for Brugada syndrome: Defective surface localization of an SCN5A mutant (R1432G)
    • Baroudi, G., et al. 2001. Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G). Circ. Res. 88:E78-E83.
    • (2001) Circ. Res. , vol.88
    • Baroudi, G.1
  • 103
    • 2342653026 scopus 로고    scopus 로고
    • Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome
    • Baroudi, G., Napolitano, C., Priori, S.G., Del Bufalo, A., and Chahine, M. 2004. Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome. Can. J. Cardiol. 20:425-430.
    • (2004) Can. J. Cardiol. , vol.20 , pp. 425-430
    • Baroudi, G.1    Napolitano, C.2    Priori, S.G.3    Del Bufalo, A.4    Chahine, M.5
  • 104
    • 1542268995 scopus 로고    scopus 로고
    • A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs
    • Valdivia, C.R., et al. 2004. A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs. Cardiovasc. Res. 62:53-62.
    • (2004) Cardiovasc. Res. , vol.62 , pp. 53-62
    • Valdivia, C.R.1
  • 105
    • 0032741905 scopus 로고    scopus 로고
    • Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent
    • Dumaine, R., et al. 1999. Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ. Res. 85:803-809.
    • (1999) Circ. Res. , vol.85 , pp. 803-809
    • Dumaine, R.1
  • 107
    • 0342827876 scopus 로고    scopus 로고
    • Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome
    • Rook, M.B., et al. 1999. Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 44:507-517.
    • (1999) Cardiovasc. Res. , vol.44 , pp. 507-517
    • Rook, M.B.1
  • 108
    • 0038637901 scopus 로고    scopus 로고
    • + channel mutation leading to loss of function and non-progressive cardiac conduction defects
    • + channel mutation leading to loss of function and non-progressive cardiac conduction defects. J. Mol. Cell. Cardiol. 35:549-557.
    • (2003) J. Mol. Cell. Cardiol. , vol.35 , pp. 549-557
    • Herfst, L.J.1
  • 109
    • 0037454049 scopus 로고    scopus 로고
    • Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease
    • Probst, V., et al. 2003. Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenegre disease. J. Am. Coll. Cardiol. 41:643-652.
    • (2003) J. Am. Coll. Cardiol. , vol.41 , pp. 643-652
    • Probst, V.1
  • 110
    • 0037066036 scopus 로고    scopus 로고
    • Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: A simulation study of mechanism
    • Clancy, C.E., and Rudy, Y. 2002. Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. Circulation. 105:1208-1213.
    • (2002) Circulation , vol.105 , pp. 1208-1213
    • Clancy, C.E.1    Rudy, Y.2
  • 111
    • 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, C.R., et al. 2003. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ. Res. 92:159-168.
    • (2003) Circ. Res. , vol.92 , pp. 159-168
    • Bezzina, C.R.1
  • 112
    • 18344362987 scopus 로고    scopus 로고
    • Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a
    • Papadatos, G.A., et al. 2002. Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc. Natl. Acad. Sci. U. S. A. 99:6210-6215.
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 6210-6215
    • Papadatos, G.A.1
  • 113
    • 4544387969 scopus 로고    scopus 로고
    • Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
    • Priori, S.G., et al. 2004. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA. 292:1341-1344.
    • (2004) JAMA , vol.292 , pp. 1341-1344
    • Priori, S.G.1
  • 114
    • 0028874658 scopus 로고
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy
    • + channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation. 92:3381-3386.
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1
  • 116
    • 0036063688 scopus 로고    scopus 로고
    • A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine
    • Valdivia, C.R., et al. 2002. A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc. Res. 55:279-289.
    • (2002) Cardiovasc. Res. , vol.55 , pp. 279-289
    • Valdivia, C.R.1
  • 117
    • 0035022511 scopus 로고    scopus 로고
    • Normalization of ventricular repolarization with flecainide in long QT syndrome patients with SCN5A:DeltaKPQ mutation
    • Windle, J.R., Geletka, R.C., Moss, A.J., Zareba, W., and Atkins, D.L. 2001. Normalization of ventricular repolarization with flecainide in long QT syndrome patients with SCN5A:DeltaKPQ mutation. Ann. Noninvasive Electrocardiol. 6:153-158.
    • (2001) Ann. Noninvasive Electrocardiol. , vol.6 , pp. 153-158
    • Windle, J.R.1    Geletka, R.C.2    Moss, A.J.3    Zareba, W.4    Atkins, D.L.5
  • 118
    • 0034702931 scopus 로고    scopus 로고
    • Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome
    • Abriel, H., Wehrens, X.H., Benhorin, J., Kerem, B., and Kass, R.S. 2000. Molecular pharmacology of the sodium channel mutation D1790G linked to the long-QT syndrome. Circulation. 102:921-925.
    • (2000) Circulation , vol.102 , pp. 921-925
    • Abriel, H.1    Wehrens, X.H.2    Benhorin, J.3    Kerem, B.4    Kass, R.S.5
  • 119
    • 0034730085 scopus 로고    scopus 로고
    • The elusive link between LQT3 and Brugada syndrome: The role of flecainide challenge
    • Priori, S.G., et al. 2000. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation. 102:945-947.
    • (2000) Circulation , vol.102 , pp. 945-947
    • Priori, S.G.1
  • 120
    • 4644298458 scopus 로고    scopus 로고
    • Efficacy of quinidine in high-risk patients with Brugada syndrome
    • Belhassen, B., Glick, A., and Viskin, S. 2004. Efficacy of quinidine in high-risk patients with Brugada syndrome. Circulation. 110:1731-1737.
    • (2004) Circulation , vol.110 , pp. 1731-1737
    • Belhassen, B.1    Glick, A.2    Viskin, S.3
  • 121
    • 2342458202 scopus 로고    scopus 로고
    • Effectiveness of sotalol treatment in symptomatic Brugada syndrome
    • Glatter, K.A., et al. 2004. Effectiveness of sotalol treatment in symptomatic Brugada syndrome. Am. J. Cardiol. 93:1320-1322.
    • (2004) Am. J. Cardiol. , vol.93 , pp. 1320-1322
    • Glatter, K.A.1
  • 122
    • 0030959522 scopus 로고    scopus 로고
    • Mechanisms of action of new antiepileptic drugs
    • Macdonald, R.L., and Greenfield, L.J., Jr. 1997. Mechanisms of action of new antiepileptic drugs. Curr. Opin. Neurol. 10:121-128.
    • (1997) Curr. Opin. Neurol. , vol.10 , pp. 121-128
    • Macdonald, R.L.1    Greenfield Jr., L.J.2
  • 123
    • 0032606082 scopus 로고    scopus 로고
    • Molecular properties of brain sodium channels: An important target for anticonvulsant drugs
    • Catterall, W.A. 1999. Molecular properties of brain sodium channels: an important target for anticonvulsant drugs. Adv. Neurol. 79:441-456.
    • (1999) Adv. Neurol. , vol.79 , pp. 441-456
    • Catterall, W.A.1
  • 124
    • 17344367657 scopus 로고    scopus 로고
    • +-channel β1 subunit gene SCN1B
    • +-channel β1 subunit gene SCN1B. Nat. Genet 19:366-370.
    • (1998) Nat. Genet , vol.19 , pp. 366-370
    • Wallace, R.H.1
  • 125
    • 0034069651 scopus 로고    scopus 로고
    • Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg, A., et al. 2000. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24:343-345.
    • (2000) Nat. Genet. , vol.24 , pp. 343-345
    • Escayg, A.1
  • 126
    • 0034987073 scopus 로고    scopus 로고
    • De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
    • Claes, L., et al. 2001. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68:1327-1332.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 1327-1332
    • Claes, L.1
  • 127
    • 14344277590 scopus 로고    scopus 로고
    • v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. U. S. A. 98:6384-6389.
    • (2001) Proc. Natl. Acad. Sci. U. S. A. , vol.98 , pp. 6384-6389
    • Sugawara, T.1
  • 128
    • 0344672944 scopus 로고    scopus 로고
    • Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures
    • Fujiwara, T., et al. 2003. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 126:531-546.
    • (2003) Brain , vol.126 , pp. 531-546
    • Fujiwara, T.1
  • 129
    • 0037077834 scopus 로고    scopus 로고
    • Sodium-channel defects in benign familial neonatal-infantile seizures
    • Heron, S.E., et al. 2002. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 360:851-852.
    • (2002) Lancet , vol.360 , pp. 851-852
    • Heron, S.E.1
  • 130
    • 0035030766 scopus 로고    scopus 로고
    • a receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene
    • A receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene. Nat. Genet. 28:46-48.
    • (2001) Nat. Genet. , vol.28 , pp. 46-48
    • Baulac, S.1
  • 131
    • 0035033520 scopus 로고    scopus 로고
    • a receptor γ2-subunit in childhood absence epilepsy and febrile seizures
    • A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28:49-52.
    • (2001) Nat. Genet. , vol.28 , pp. 49-52
    • Wallace, R.H.1
  • 132
    • 12144285702 scopus 로고    scopus 로고
    • Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
    • Berkovic, S.F., et al. 2004. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann. Neurol. 55:550-557.
    • (2004) Ann. Neurol. , vol.55 , pp. 550-557
    • Berkovic, S.F.1
  • 133
    • 0345304764 scopus 로고    scopus 로고
    • Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?
    • Ohmori, I., et al. 2003. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain Dev. 25:488-493.
    • (2003) Brain Dev. , vol.25 , pp. 488-493
    • Ohmori, I.1
  • 134
    • 10744227466 scopus 로고    scopus 로고
    • + channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
    • + channel α1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 45:140-148.
    • (2004) Epilepsia , vol.45 , pp. 140-148
    • Fukuma, G.1
  • 135
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy
    • Escayg, A., et al. 2001. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am. J. Hum. Genet. 68:866-873.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 866-873
    • Escayg, A.1
  • 136
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
    • Wallace, R.H., et al. 2001. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 68:859-865.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 859-865
    • Wallace, R.H.1
  • 137
    • 0035956488 scopus 로고    scopus 로고
    • Partial epilepsy and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    • Abou-Khalil, B., et al. 2001. Partial epilepsy and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 57:2265-2272.
    • (2001) Neurology , vol.57 , pp. 2265-2272
    • Abou-Khalil, B.1
  • 138
    • 0035964102 scopus 로고    scopus 로고
    • v1.1 mutations cause febrile seizures associated with afebrile partial seizures
    • v1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology. 57:703-705.
    • (2001) Neurology , vol.57 , pp. 703-705
    • Sugawara, T.1
  • 139
    • 0036158906 scopus 로고    scopus 로고
    • +-channel α1 subunit gene, SCN1A
    • +-channel α1 subunit gene, SCN1A. Epilepsy Res. 48:15-23.
    • (2002) Epilepsy Res. , vol.48 , pp. 15-23
    • Ito, M.1
  • 140
    • 0036304363 scopus 로고    scopus 로고
    • Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy
    • Ohmori, I., Ouchida, M., Ohtsuka, Y., Oka, E., and Shimizu, K. 2002. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem. Biophys. Res. Commun. 295:17-23.
    • (2002) Biochem. Biophys. Res. Commun. , vol.295 , pp. 17-23
    • Ohmori, I.1    Ouchida, M.2    Ohtsuka, Y.3    Oka, E.4    Shimizu, K.5
  • 141
    • 0037046207 scopus 로고    scopus 로고
    • Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
    • Sugawara, T., et al. 2002. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 58:1122-1124.
    • (2002) Neurology , vol.58 , pp. 1122-1124
    • Sugawara, T.1
  • 142
    • 0034850563 scopus 로고    scopus 로고
    • Severe myoclonic epilepsy of infancy: Extended spectrum of GEFS+?
    • Singh, R., et al. 2001. Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia. 42:837-844.
    • (2001) Epilepsia , vol.42 , pp. 837-844
    • Singh, R.1
  • 143
    • 0141653010 scopus 로고    scopus 로고
    • A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
    • Audenaert, D., et al. 2003. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology. 61:854-856.
    • (2003) Neurology , vol.61 , pp. 854-856
    • Audenaert, D.1
  • 145
    • 0032512652 scopus 로고    scopus 로고
    • + channel function in the extracellular domain of the β1 subunit
    • + channel function in the extracellular domain of the β1 subunit. J. Biol. Chem. 273:3954-3962.
    • (1998) J. Biol. Chem. , vol.273 , pp. 3954-3962
    • McCormick, K.A.1
  • 147
    • 0037115031 scopus 로고    scopus 로고
    • Functional and biochemical analysis of a sodium channel β1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1
    • Meadows, L.S., et al. 2002. Functional and biochemical analysis of a sodium channel β1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. J. Neurosci. 22:10699-10709.
    • (2002) J. Neurosci. , vol.22 , pp. 10699-10709
    • Meadows, L.S.1
  • 148
    • 11144354817 scopus 로고    scopus 로고
    • Mice lacking sodium channel β1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture
    • Chen, C., et al. 2004. Mice lacking sodium channel β1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture J. Neurosci. 24:4030-4042.
    • (2004) J. Neurosci. , vol.24 , pp. 4030-4042
    • Chen, C.1
  • 150
    • 20844446135 scopus 로고    scopus 로고
    • A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction
    • Spampanato, J., et al. 2004. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J. Neurosci. 24:10022-10034.
    • (2004) J. Neurosci. , vol.24 , pp. 10022-10034
    • Spampanato, J.1
  • 151
    • 0347479237 scopus 로고    scopus 로고
    • Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A
    • Lossin, C., et al. 2003. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J. Neurosci. 23:11289-11295.
    • (2003) J. Neurosci. , vol.23 , pp. 11289-11295
    • Lossin, C.1
  • 153
    • 12144288410 scopus 로고    scopus 로고
    • Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia
    • Yang, Y., et al. 2004. Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J. Med. Genet. 41:171-174.
    • (2004) J. Med. Genet. , vol.41 , pp. 171-174
    • Yang, Y.1
  • 155
    • 4944239130 scopus 로고    scopus 로고
    • A case of primary erythromelalgia improved by mexiletine
    • Jang, H.S., et al. 2004. A case of primary erythromelalgia improved by mexiletine. Br. J. Dermatol. 151:708-710.
    • (2004) Br. J. Dermatol. , vol.151 , pp. 708-710
    • Jang, H.S.1
  • 156
    • 0037701447 scopus 로고    scopus 로고
    • Treatment of familial erythermalgia with the association of lidocaine and mexiletine
    • Legroux-Crespel, E., et al. 2003. Treatment of familial erythermalgia with the association of lidocaine and mexiletine. Ann. Dermatol. Venereol. 130:429-433.
    • (2003) Ann. Dermatol. Venereol. , vol.130 , pp. 429-433
    • Legroux-Crespel, E.1
  • 157
    • 0034823129 scopus 로고    scopus 로고
    • Resolution of refractory symptoms of secondary erythermalgia with intermittent epidural bupivacaine
    • Stricker, L.J., and Green, C.R. 2001. Resolution of refractory symptoms of secondary erythermalgia with intermittent epidural bupivacaine. Reg. Anesth. Pain Med. 26:488-490.
    • (2001) Reg. Anesth. Pain Med. , vol.26 , pp. 488-490
    • Stricker, L.J.1    Green, C.R.2
  • 159
    • 0029789472 scopus 로고    scopus 로고
    • A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting
    • Kohrman, D.C., Smith, M.R., Goldin, A.L., Harris, J., and Meisler, M.H. 1996. A missense mutation in the sodium channel Scn8a is responsible for cerebellar ataxia in the mouse mutant jolting. J. Neurosci. 16:5993-5999.
    • (1996) J. Neurosci. , vol.16 , pp. 5993-5999
    • Kohrman, D.C.1    Smith, M.R.2    Goldin, A.L.3    Harris, J.4    Meisler, M.H.5
  • 160
    • 0037168659 scopus 로고    scopus 로고
    • Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel β2-subunits
    • Chen, C., et al. 2002. Reduced sodium channel density, altered voltage dependence of inactivation, and increased susceptibility to seizures in mice lacking sodium channel β2-subunits. Proc. Natl. Acad. Sci. U. S. A. 99:17072-17077.
    • (2002) Proc. Natl. Acad. Sci. U. S. A. , vol.99 , pp. 17072-17077
    • Chen, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.