| 나트륨통로 SCN4A 유전자 돌연변이로 발생한 고칼륨주기마비 |
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| Hyperkalemic Periodic Paralysis Caused by a Mutation in the
Sodium Channel SCN4A Gene |
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Youn Kyoung Kim, Sa-Yoon Kang |
Correspondence:
Sa-Yoon Kang,
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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. |
| Key Words:
Autosomal Dominant, Hyperkalemic Periodic Paralysis, Myotonia, SCN4A Gene |
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