| An Arg1239His mutation of the CACNL1A3 gene in a Korean family
with hypokalemic periodic paralysis |
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Chae Young Yeo1, Young Ok Kim1, Myeong Kyu Kim2, Ji Youn Kim1, Young Kuk Cho1, Chan Jong Kim1, Young Jong Woo1 |
1Departments of Pediatrics, Chonnam National University Medical School, Gwangju, Korea
2Departments of Neurology, Chonnam National University Medical School, Gwangju, Korea |
| 가족성 저칼륨성 주기성 마비 1예 |
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여채영1, 김영옥1, 김명규2, 김지윤1, 조영국1, 김찬종1, 우영종1 |
1전남대학교 의과대학 소아과학교실
2전남대학교 의과대학 신경과학교실 |
Correspondence:
Young Ok Kim, Email: ik052@unitel.co.kr
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| Abstract |
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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. |
| Key Words:
Hypokalemic periodic paralysis, CACNL1A3, Arg1239His mutation, Korean |
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