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Volumn 16, Issue 2, 2011, Pages 163-166

Hyperkalemic periodic paralysis and paramyotonia congenita caused by a de novo mutation in the SCN4A gene

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; CREATINE KINASE; GLUCOSE; INSULIN; POTASSIUM; POTASSIUM CHLORIDE;

EID: 79960537003     PISSN: 18236138     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (1)

References (12)
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    • The skeletal muscle ion channelopathies: Basic science, clinical genetics and treatment
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  • 3
    • 33947524340 scopus 로고    scopus 로고
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    • Jurkat-Rott, K.1    Lehmann-Horn, F.2
  • 4
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    • Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: Broadening the clinical spectrum associated with the T704M mutation in SCN4A
    • Brancati F, Valente EM, Davies NP, et al. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry 2003; 74:1339-41.
    • (2003) J Neurol Neurosurg Psychiatry , vol.74 , pp. 1339-1341
    • Brancati, F.1    Valente, E.M.2    Davies, N.P.3
  • 5
    • 0033564055 scopus 로고    scopus 로고
    • Activation and inactivation of the voltage-gated sodium channel: Role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation
    • Bendahhou S, Cummins TR, Tawil R, et al. Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation. J Neurosci 1999; 19:4762-71.
    • (1999) J Neurosci , vol.19 , pp. 4762-4771
    • Bendahhou, S.1    Cummins, T.R.2    Tawil, R.3
  • 6
    • 0033842533 scopus 로고    scopus 로고
    • A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
    • Bendahhou S, Cummins TR, Hahn AF, et al. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. J Clin Invest 2000; 106:431-8.
    • (2000) J Clin Invest , vol.106 , pp. 431-438
    • Bendahhou, S.1    Cummins, T.R.2    Hahn, A.F.3
  • 7
    • 0037161246 scopus 로고    scopus 로고
    • Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5
    • Bendahhou S, Cummins TR, Kula RW, et al. Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5. Neurology 2002; 58:1266-72.
    • (2002) Neurology , vol.58 , pp. 1266-1272
    • Bendahhou, S.1    Cummins, T.R.2    Kula, R.W.3
  • 10
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    • An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
    • Park YH, Kim JB. An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A. Korean J Pediatr 2010; 53:909-12.
    • (2010) Korean J Pediatr , vol.53 , pp. 909-912
    • Park, Y.H.1    Kim, J.B.2
  • 11
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    • Paramyotonia congenita: Genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene
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    • Plassart, E.1    Eymard, B.2    Maurs, L.3
  • 12
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    • Different effectiveness of tocainide and hydrochlorothiazide in paramyotonia congenita with hyperkalemic episodic paralysis
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.