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Ji-Yeon Han (Han JY)

1 Article

Case Report

Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A

Ji-Yeon Han, June-Bum Kim

Clin Exp Pediatr. 2011;54(11):470-472. Published online November 30, 2011

Crossref 5

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...

DOI: https://doi.org/10.3345/kjp.2011.54.11.470

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