• The Journal of Korean Medicine
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• v.21 no.2
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• pp.87-94
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• 2000

Hypokalemic periodic paralysis(HypoPP) is characterized by an abrupt onset of flaccid paralysis with a clear mentality, but muscles of speech and swallowing are usually spared. We report on three patients who suffered attacks of acute paralysis. After exclusion of central nervous system involvement, the patients showing hypokalemia was diagnosed as hypokalemic periodic paralysis, which was completely reversible on parenteral potassium substitution.

• Clinical and Experimental Pediatrics
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• v.51 no.7
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• pp.771-774
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• 2008

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.