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Volumn 53, Issue 10, 2010, Pages 909-912

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A

Author keywords

Hypokalemic periodic paralysis; Respiratory insufficiency; Sodium channel

Indexed keywords


EID: 79951782054     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2010.53.10.909     Document Type: Article
Times cited : (15)

References (13)
  • 1
    • 0002615879 scopus 로고    scopus 로고
    • Channelopathies
    • In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors, 8th ed. New York: McGraw-Hill
    • Jen J, Ptacek L. Channelopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. Metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill, 2001: 5223-38.
    • (2001) Metabolic and Molecular Bases of Inherited Disease , pp. 5223-5238
    • Jen, J.1    Ptacek, L.2
  • 2
    • 0030992784 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis: An autosomal dominant muscle disorder caused by mutations in a voltagegated calcium channel
    • Lapie P, Lory P, Fontaine B. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltagegated calcium channel. Neuromuscul Disord 1997;7:234-40.
    • (1997) Neuromuscul Disord , vol.7 , pp. 234-240
    • Lapie, P.1    Lory, P.2    Fontaine, B.3
  • 3
    • 0034992428 scopus 로고    scopus 로고
    • Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A
    • Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, et al. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001;124:1091-9.
    • (2001) Brain , vol.124 , pp. 1091-1099
    • Sternberg, D.1    Maisonobe, T.2    Jurkat-Rott, K.3    Nicole, S.4    Launay, E.5    Chauveau, D.6
  • 4
    • 67649397890 scopus 로고    scopus 로고
    • Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis
    • Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology 2009;72:1544-7.
    • (2009) Neurology , vol.72 , pp. 1544-1547
    • Matthews, E.1    Labrum, R.2    Sweeney, M.G.3    Sud, R.4    Haworth, A.5    Chinnery, P.F.6
  • 5
    • 53349144899 scopus 로고    scopus 로고
    • Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy
    • Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, et al. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med 2008;40:665-71.
    • (2008) J Rehabil Med , vol.40 , pp. 665-671
    • Paternostro-Sluga, T.1    Grim-Stieger, M.2    Posch, M.3    Schuhfried, O.4    Vacariu, G.5    Mittermaier, C.6
  • 6
    • 0033055152 scopus 로고    scopus 로고
    • Dominant-inherited hypokalemic periodic paralysis in a large Chinese family
    • Yeh JH, Sun MH, Chiu HC. Dominant-inherited hypokalemic periodic paralysis in a large Chinese family. J Formos Med Assoc 1999;98:277-82.
    • (1999) J Formos Med Assoc , vol.98 , pp. 277-282
    • Yeh, J.H.1    Sun, M.H.2    Chiu, H.C.3
  • 7
    • 0015492501 scopus 로고
    • Hypokalemic periodic paralysis with arrhythmia
    • Levitt LP, Rose LI, Dawson DM. Hypokalemic periodic paralysis with arrhythmia. N Engl J Med 1972;286:253-4.
    • (1972) N Engl J Med , vol.286 , pp. 253-254
    • Levitt, L.P.1    Rose, L.I.2    Dawson, D.M.3
  • 9
    • 33646045318 scopus 로고    scopus 로고
    • The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis
    • Ke Q, Xu QG, Huang DH, Yuan HJ, Zhao YL, Wu WP. The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis. Zhonghua Yi Xue Za Zhi. 2006;86:724-7.
    • (2006) Zhonghua Yi Xue Za Zhi , vol.86 , pp. 724-727
    • Ke, Q.1    Xu, Q.G.2    Huang, D.H.3    Yuan, H.J.4    Zhao, Y.L.5    Wu, W.P.6
  • 10
    • 0028269130 scopus 로고
    • Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
    • Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis HJ. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
    • (1994) J Neurol Sci , vol.122 , pp. 33-43
    • Links, T.P.1    Smit, A.J.2    Molenaar, W.M.3    Zwarts, M.J.4    Oosterhuis, H.J.5
  • 11
    • 0034842191 scopus 로고    scopus 로고
    • Sodium channel inactivation defects are associated with acetazolamideexacerbated hypokalemic periodic paralysis
    • Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamideexacerbated hypokalemic periodic paralysis. Ann Neurol 2001;50:417-20.
    • (2001) Ann Neurol , vol.50 , pp. 417-420
    • Bendahhou, S.1    Cummins, T.R.2    Griggs, R.C.3    Fu, Y.H.4    Ptacek, L.J.5
  • 12
    • 50549173128 scopus 로고
    • Periodic paralysis with response to spironolactone
    • Poskanzer DC, Kerr DN. Periodic paralysis with response to spironolactone. Lancet 1961;2:511-3.
    • (1961) Lancet , vol.2 , pp. 511-513
    • Poskanzer, D.C.1    Kerr, D.N.2
  • 13
    • 0023199595 scopus 로고
    • Hypokalemic periodic paralysis with unusual responses to acetazolamide and sympathomimetics
    • Vern BA, Danon MJ, Hanlon K. Hypokalemic periodic paralysis with unusual responses to acetazolamide and sympathomimetics. J Neurol Sci 1987;81:159-72.
    • (1987) J Neurol Sci , vol.81 , pp. 159-172
    • Vern, B.A.1    Danon, M.J.2    Hanlon, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.