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CASE REPORT
Korean J Pediatr 2011 November;54(11) :470-472.
Published online 1970 January 01.        doi:https://doi.org/10.3345/kjp.2011.54.11.470
Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A
Ji-Yeon Han (Han JY), June-Bum Kim (Kim JB)
Department of Pediatrics, Konyang University College of Medicine, Daejeon, Korea
Corresponding Author: June-Bum Kim ,Tel: +82-42-600-9230, Fax: +82-42-600-8835, Email: hoppdoctor@hanmail.net
Copyright © 2011 by The Korean Pediatric Society
ABSTRACT
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 SCN4A gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the SCN4A gene. A de novo SCN4A mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a de novo mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.
Keywords: Hyperkalemic periodic paralysis | Mutation | SCN4A
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An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A  2010 October;53(10)
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