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Original Article
The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis
June-Bum Kim, Sung-Jo Kim, Sun-Yang Kang, Jin Woong Yi, Seung-Min Kim
Clin Exp Pediatr. 2014;57(10):445-450.   Published online October 31, 2014
Purpose

Familial hypokalemic periodic paralysis (HOKPP) is an autosomal dominant channelopathy characterized by episodic attacks of muscle weakness and hypokalemia. Mutations in the calcium channel gene, CACNA1S, or the sodium channel gene, SCN4A, have been found to be responsible for HOKPP; however, the mechanism that causes hypokalemia remains to be determined. The aim of this study was to improve the understanding...

Case Report
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Hunmin Kim, Hee Hwang, Hae Il Cheong, Hye Won Park
Clin Exp Pediatr. 2011;54(11):473-476.   Published online November 30, 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the...

An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
Yang Hee Park, June Bum Kim
Clin Exp Pediatr. 2010;53(10):909-912.   Published online October 31, 2010

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium...

An Arg1239His mutation of the CACNL1A3 gene in a Korean family with hypokalemic periodic paralysis
Chae Young Yeo, Young Ok Kim, Myeong Kyu Kim, Ji Youn Kim, Young Kuk Cho, Chan Jong Kim, Young Jong Woo
Clin Exp Pediatr. 2008;51(7):771-774.   Published online July 15, 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...
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