Korean J Pediatr.
2010 Oct;53(10):909-912. 10.3345/kjp.2010.53.10.909.
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
- Affiliations
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- 1Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea. hoppdoctor@hanmail.net
- KMID: 2011555
- DOI: http://doi.org/10.3345/kjp.2010.53.10.909
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.
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