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KMID : 1161920140110010005
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Journal of Medicine and Life Science
2014 Volume.11 No. 1 p.5 ~ p.7
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Hyperkalemic Periodic Paralysis Caused by a Mutation in the Sodium Channel SCN4A Gene
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Kim Youn-Kyoung
Kang Sa-Yoon
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Abstract
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Hyperkalemic periodic paralysis (HyperPP) is an autosomal dominant muscle sodium channelopathy characterized by recurrent episode of reversible paralysis with concomitant hyperkalemia. The diagnosis of HyperPP is suggested by a history of attacks of paralysis, positive family history, and the presence of myotonia. A 19-year-old man presented with recurrent generalized limb weakness since childhood. The paralysis often followed by fatigue, exercise, and fasting. His parents were clinically unaffected and had never experienced paralytic symptoms. Electromyographic evaluation demonstrated myotonic discharge. Direct sequencing of SCN4A exon 24 revealed a heterozygous A>G transition at nucleotide 4774, resulting in the substitution of a methionine by a valine at codon 1592 (Met1592Val). We report a patient with HyperPP confirmed by Met1592Val mutation in SCN4A gene.
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KEYWORD
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Autosomal Dominant, Hyperkalemic Periodic Paralysis, Myotonia, SCN4A Gene
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