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KMID : 1130320100530100909
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Korean Journal of Pediatrics
2010 Volume.53 No. 10 p.909 ~ p.912
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An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A
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Park Yang-Hee
Kim June-Bum
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Abstract
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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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KEYWORD
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Hypokalemic periodic paralysis, Respiratory insufficiency, Sodium channel
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