Browse > Article
http://dx.doi.org/10.3345/kjp.2010.53.10.909

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

Park, Yang-Hee (Department of Pediatrics, Konyang University College of Medicine)
Kim, June-Bum (Department of Pediatrics, Konyang University College of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.53, no.10, 2010 , pp. 909-912 More about this Journal
Abstract
Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene $SCN4A$, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.
Keywords
Hypokalemic periodic paralysis; Respiratory insufficiency; Sodium channel;
Citations & Related Records
연도 인용수 순위
  • Reference
1 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.
2 Poskanzer DC, Kerr DN. Periodic paralysis with response to spironolactone. Lancet 1961;2:511-3.
3 Vern BA, Danon MJ, Hanlon K. Hypokalemic periodic paralysis with unusual responses to acetazolamide and sympathomimetics. J Neurol Sci 1987;81:159-72.   DOI   ScienceOn
4 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.
5 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.   DOI   ScienceOn
6 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.   DOI   ScienceOn
7 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.   DOI   ScienceOn
8 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.   DOI   ScienceOn
9 Yeh JH, Sun MH, Chiu HC. Dominant-inherited hypokalemic periodic paralysis in a large Chinese family. J Formos Med Assoc 1999;98:277-82.
10 Levitt LP, Rose LI, Dawson DM. Hypokalemic periodic paralysis with arrhythmia. N Engl J Med 1972;286:253-4.   DOI   ScienceOn
11 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.   DOI   ScienceOn
12 Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 2004;63:1647-55.   DOI   ScienceOn
13 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.   DOI   ScienceOn