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

= 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. (Korean J Pediatr 2008;51:771-774

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