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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...

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Ji-Yeon Han, June-Bum Kim
Clin Exp Pediatr. 2011;54(11):470-472.   Published online November 30, 2011

Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in 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...
Original Article
Hypokalemic Periodic Paralysis.
Seok Min Choi, Jong Kyun Lee, Pyung Kil Kim
Clin Exp Pediatr. 1988;31(11):1499-1501.   Published online November 30, 1988
Periodic paralysis is a group of illness characterized by episodic attacks of muscle weakness with complete or nearly complete recovery of strength between attacks. In hypokalemic form, serum potassim level is usually low during the paralytic phase. But the basic defect is unknown. We have experienced a case of hypokalemic periodic paralysis in a 7-year-old girl who had intermittent attacks of flaccid paralysis of...
Case Report
A Case of Periodic Paralysis.
In Hwa Lee, Sung Man Kim, Byoung Soo Cho, Sa Jun Chung, Chang II Ahn, Kyung Hoi Ahn
Clin Exp Pediatr. 1985;28(5):510-513.   Published online May 31, 1985
Periodic paralysis is a group of diseases of unknown cause characterized by recurrent attacks of weakness or paralysis of the limb muscles, accompanied by loss of deep reflexes and failure of the muscles to respond to electrical stimulation. We have experienced a case of periodic paralysis in a 8-year-old boy who had frequent attacks of flaccid paralysis of the trunk and...
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