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http://dx.doi.org/10.3345/kjp.2008.51.7.771

An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis  

Yeo, Chae Young (Department of Pediatrics, Chonnam National University Medical School)
Kim, Young Ok (Department of Pediatrics, Chonnam National University Medical School)
Kim, Myeong Kyu (Department of Neurology, Chonnam National University Medical School)
Kim, Ji Youn (Department of Pediatrics, Chonnam National University Medical School)
Cho, Young Kuk (Department of Pediatrics, Chonnam National University Medical School)
Kim, Chan Jong (Department of Pediatrics, Chonnam National University Medical School)
Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School)
Publication Information
Clinical and Experimental Pediatrics / v.51, no.7, 2008 , pp. 771-774 More about this Journal
Abstract
Familial hypokalemic periodic paralysis (hypoPP) is a rare inherited channelopathy that often presents with episodic weakness accompanied by hypokalemia. Thus far, mutations in the gene encoding two ion channels (CACNL1A3, L-type calcium channel alpha-1 subunit and SCN4A, a sodium channel type IV alpha subunit) have been identified. Several cases of familial hypoPP in children have been reported in Koreans, but there are only a few cases with identified mutations. We report a 12-year-old boy and his affected mother with hypoPP who has a heterozygous G to A substitution at codon 1239 in exon 30 of the CACNL1A3 gene that causes a change from arginine to histidine (Arg1239His, CACNL1A3). This mutation is common among Caucasians; however, it has not yet been reported in Koreans. The patients were treated with oral acetazolamide and potassium replacement and were instructed to avoid precipitating factors. After the medication and lifestyle modification, the paralytic attacks significantly decreased.
Keywords
Hypokalemic periodic paralysis; CACNL1A3; Arg1239His mutation; Korean;
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1 Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, et al. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006;129:8-17   DOI
2 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
3 Elbaz A, Vale-Santos J, jurkat-Rott K, Lapie P, Ophoff RA, Bady B, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNLlA3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Med Genet 1995;56:374-80   DOI   ScienceOn
4 Kim SH, Kim UK, Chae JJ, Kim DJ, Oh HY, Kim BJ, et al. Identification of mutations including de novo mutations in Korean patients with hypokalaemic periodic paralysis. Nephrol Dial Transplant 2001;16:939-44   DOI   ScienceOn
5 Ke Q, Wu WP, Guo XH, Xu QG, Huang DH, Mao YL, et al. R1239H mutation of CACNAIS gene in a Chinese family with hypokalaemic periodic paralysis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006;23:272-4
6 Sternberg D, Maisonobe T, jurkat-Rott K, Nicole S, Launay E, Chauveau D, et al. Hypokalaemic 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 Kusumi M, Kumada H, Adachi Y, Nakashima K. Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis. Psychiatry and Clinical Neurosciences 2001;55:539-41   DOI   ScienceOn
8 Kim JB, Lee KY, Hur JK. A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G). J Korean Med Sci 2005;20:162-5   DOI   ScienceOn
9 Kim MK, Lee SH, Park MS, Kim BC, Cho KH, Lee MC, et al. Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation. Neuromuscul Disord 2004;14:727-31   DOI   ScienceOn
10 Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, et al. Genotype-phenotype correlations of DHP receptor alpha I-subunit gene mutations causing hypokalemic periodic paralysis. Neuromuscul Disord 1997; 7:338
11 Sarnat HE. Neuromuscular disorders. In: Beherman RE, Kliegman RM, Jenson HE editors. Nelson Textbook of Pediatrics. 17th ed. Philadelphia: WB Saunders Co, 2004: 2070-1
12 Tricarico D, Servidei S, Tonali P, jurkat-Rott K, Camerino DC. Impairment of skeletal muscle adenosine triphosphatesensitive K + channels in patients with hypokalemic periodic paralysis. J Clin Invest 1999;103:675-82   DOI   ScienceOn
13 Sillen A, Sorensen T, Kantola I, Friis ML, Gustavson KH, Wadelius C. Identification of mutations in the CACNLlA3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am J Med Genet 1997;69:102-6   DOI   ScienceOn