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CASE REPORT
Korean J Pediatr 2010 October;53(10) :909-912.
doi:https://doi.org/10.3345/kjp.2010.53.10.909
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
Yang Hee Park (Park YH), June-Bum Kim (Kim JB)
Department of Pediatrics, Konyang University College of Medicine, Daejun, Korea
Corresponding Author: June-Bum Kim ,Email: hoppdoctor@hanmail.net
Copyright © 2010 by The Korean Pediatric Society
ABSTRACT
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 channel gene SCN4A, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.
Keywords: Hypokalemic periodic paralysis | Respiratory insufficiency | Sodium channel
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Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A  2011 November;54(11)
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