A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G)

Journal of Korean Medical Science

Volumn 20, Issue 1, 2005, Pages 162-165

  Kim, June Bum ^a   Lee, Kyung Yil ^a   Hur, Jae Kyun ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

Calcium Channels; Children; Hypokalemic Periodic Paralysis; Mutation; Spironolactone

Indexed keywords

ACETAZOLAMIDE; AMINO ACID; ARGININE; GLYCINE; NUCLEOTIDE; SPIRONOLACTONE;

ADOLESCENT; ARTICLE; CASE REPORT; CODON; EXON; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOKALEMIC PERIODIC PARALYSIS; KOREA; MALE; PREDICTION; TREATMENT OUTCOME; VOLTAGE GATED CALCIUM CHANNEL;

EID: 14844299777     PISSN: 10118934     EISSN: None     Source Type: Journal    
DOI: 10.3346/jkms.2005.20.1.162     Document Type: Article

References (28)

1. Talb H. Periodic paralysis. Medicine 1941; 20: 85-96.
2. Jen J, Ptacek L. Channelopathies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). Metabolic and molecular bases of inherited disease, 8th ed., New York: McGraw-Hill, 2001; 5223-38.
3. Lapie P, Lory P, Fontaine B. Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel. Neuromusc Disord 1997; 7: 234-40.
4. Sternberg D, Maisonobe T, Jurkat-Rott K, Nicole S, Launay E, Chauveau D, Tabti N, Lehmann-Horn F, Hainque B, Fontaine B. Hypokalemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A. Brain 2001; 124: 1091-9.
5. Caciotti A, Morrone A, Domenici R, Donati MA, Zammarchi E. Severe prognosis in a large family with hypokalemic periodic paralysis. Muscle Nerve 2003; 27: 165-9.
6. Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology 1999; 53: 1932-6.
7. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, Fontaine B. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet 1994; 3: 1415-9.
8. Fontaine B, Vale Santos JM, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, Baumann N, Fardeau M, Lehmann-Horn F. Mapping of the hypokalemic periodic paralysis to chromosome 1q31-q32 in three European families. Nat Genet 1994; 6: 267-72.
9. Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 1994; 77: 863-8.
10. Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A 3): genotype/ phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 Caucasian families. Am J Hum Genet 1995; 56: 374-80.
11. Grosson CS, Esteban J, Mckenna-Yasek D, Gusella JF, Brown RH. Hypokalemic periodic paralysis mutations: confirmation of mutation and analysis of founder effect. Neuromusc Disord 1996; 6: 27-31.
12. Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptacek LJ. Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. Neuromusc Disord 1997; 7: 33-8.
13. Bendahhou S, Cummins TR, Hahn AF, Langlois S, Waxman SG, Ptacek LJ. Sodium channel inactivation defects are associated with acetazolamide- exacerbated hypokalemic periodic paralysis. Ann Neurol 2001; 50: 417-20.
14. Seo SK, Lee GH, Jeong HY, Kim SW, Kim KH. A case of familial hypokalemic periodic paralysis. J Korean Pediatr Soc 1989; 32: 1012-6.
15. Kim KK, Lee JH, Lee SS, Roh JK, Lee SB, Myung H. Two cases of familial hypokalemic periodic paralysis. J Korean Neurol Sci 1990; 8: 180-4.
16. Kim SH, Kim UK, Chae JJ, Kim DJ, Oh HY, Kim BJ, Lee CC. Identification of mutations including de novo mutations in Korean patients with hypokalemic periodic paralysis. Nephrol Dial Transplant 2001; 16: 939-44.
17. Catteral WA. Structure and function of voltage-sensitive ion channels. Science 1988; 242: 50-61.
18. Perez-Reyes E, Kim HS, Lacerda AE, Horne W, Wei XY, Rampe D, Campbell KP, Brown AM, Birnbaumer L. Induction of calcium currents by the expression of the α1-subunit of the dihydropyridine receptor from skeletal muscle. Nature 1989; 340: 233-6.
19. Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis. Ann Intern Med 1970; 73: 39-48.
20. Tricarico D, Barbieri M, Camerino DC. Acetazolamide opens the muscular KCa2+ channel: a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann Neurol 2000; 48: 304-12.
21. 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.
22. Poskanzer DC, Kerr DN. Periodic paralysis with response to spironolactone. Lancet 1961; 2: 511-3.
23. Torres CF, Griggs RC, Moxley RT, Bender AN. Hypokalemic periodic paralysis exacerbated by acetazolamide. Neurology 1981; 31: 1423-8.
24. Rischbieth RH. Hypokalemic periodic paralysis unresponsive to acetazolamide. Clin Exp Neurol 1981; 18: 87-90.
25. Vern BA, Danon MJ, Hanlon K. Hypokalemic periodic paralysis with unusual responses to acetazolamide and sympathomimetics. J Neurol Sci 1987; 81: 159-72.
26. Tawil R, McDermott MP, Brown R Jr, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. Randomized trials of dichlorphenamide in the periodic paralysis. Working Group on Periodic Paralysis. Ann Neurol 2000; 47: 46-53.
27. Lambert C, Blanloeil Y, Horber RK, Berard L, Reyford H, Pinaud M. Malignant hyperthermia in a patient with hypokalemic periodic paralysis. Anesth Analg 1994; 79: 1012-4.
28. Horton B. Anesthetic experiences in a family with hypokalemic familial periodic paralysis. Anesthesiology 1977; 47: 308-10.