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Annals of Neurology
Volumn 42, Issue 2, 1997, Pages 253-256
A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism
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[No Author keywords available]
Indexed keywords

SODIUM CHANNEL;
EID: 0030818826     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420219     Document Type: Article
Times cited : (16)
References (14)
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  • 3
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    • Rüdel R, Ricker K, Lehmann-Horn F. Genotype-phenotype correlations in human skeletal muscle sodium channel diseases. Arch Neurol 1993;50:1241-1248
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  • 4
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    • + channel mutation causing hyperkalemic periodic paralysis
    • + channel mutation causing hyperkalemic periodic paralysis. Neuron 1993;10:667-678
    • (1993) Neuron , vol.10 , pp. 667-678
    • Cummins, T.R.1    Zhou, J.2    Sigworth, F.J.3
  • 5
    • 0027409755 scopus 로고
    • Functional expression of sodium channel mutations identified in families with periodic paralysis
    • Cannon SC, Strittmatter SM. Functional expression of sodium channel mutations identified in families with periodic paralysis. Neuron 1993;10:317-326
    • (1993) Neuron , vol.10 , pp. 317-326
    • Cannon, S.C.1    Strittmatter, S.M.2
  • 6
    • 0029976727 scopus 로고    scopus 로고
    • Impaired slow inactivation in mutant sodium channels
    • Cummins TR, Sigworth FJ. Impaired slow inactivation in mutant sodium channels. Biophys J 1996;71:227-236
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  • 7
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    • Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis
    • Hayward LJ, Brown RH Jr, Cannon SC. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis. Biophys J 1997;72:1204-1219
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    • Hayward, L.J.1    Brown Jr., R.H.2    Cannon, S.C.3
  • 8
    • 0028959895 scopus 로고
    • Hyperkalemic periodic paralysis with cardiac dysrhythmia: A novel sodium channel mutation?
    • Baquero JL, Ayala RA, Wang JW, et al. Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation? Ann Neurol 1995;37:408-411
    • (1995) Ann Neurol , vol.37 , pp. 408-411
    • Baquero, J.L.1    Ayala, R.A.2    Wang, J.W.3
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    • Primary structure of the adult human skeletal muscle voltage-dependent sodium channel
    • George AL Jr, Komisarof J, Kallen RG, Barchi RL. Primary structure of the adult human skeletal muscle voltage-dependent sodium channel. Ann Neurol 1992;31:131-137
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    • Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro
    • Yang N, Ji S, Zhou M, et al. Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro. Proc Natl Acad Sci USA 1994;91:12785-12789
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    • The cloning and expression of a sodium channel beta 1-subunit cDNa from human brain
    • McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet 1993;2:745-749
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  • 12
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    • Ptacek LJ, Gouw L, Kwiecinski H, et al. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol 1993;33:300-307
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  • 14
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    • Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
    • Tawil R, Ptacek LJ, Pavlakis SG, et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994;35:326-330
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.