An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis.
10.3345/kjp.2008.51.7.771
- Author:
Chae Young YEO
1
;
Young Ok KIM
;
Myeong Kyu KIM
;
Ji Youn KIM
;
Young Kuk CHO
;
Chan Jong KIM
;
Young Jong WOO
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@unitel.co.kr
- Publication Type:Case Report
- Keywords:
Hypokalemic periodic paralysis;
CACNL1A3;
Arg1239His mutation;
Korean
- MeSH:
Acetazolamide;
Arginine;
Calcium Channels, L-Type;
Channelopathies;
Child;
Codon;
Exons;
Histidine;
Humans;
Hypokalemia;
Hypokalemic Periodic Paralysis;
Ion Channels;
Life Style;
Mothers;
Potassium;
Precipitating Factors;
Sodium Channels
- From:Korean Journal of Pediatrics
2008;51(7):771-774
- CountryRepublic of Korea
- Language:English
-
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.
