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Korean J Pediatr 2011 November;54(11) :473-476.
doi:https://doi.org/10.3345/kjp.2011.54.11.473
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Hunmin Kim (Kim H)1, Hee Hwang (Hwang H)1, Hae Il Cheog (Cheog HI)2, Hye Won Park (Park HW)1
1Department of Pediatrics, Seoul National University Bundang Hospital, Seongnam, Korea
2Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
Corresponding Author: Hye Won Park ,Tel: +82-31-787-7289, Fax: +82-31-787-4054, Email: parkhyewon@dreamwiz.com
Copyright © 2011 by The Korean Pediatric Society
ABSTRACT
Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes (CACNA1S p.Arg528His and SCN4A p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of SCN4A mutations and CACNA1S mutations. We identified p.Arg672His in the SCN4A gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.
Keywords: CACNA1S | Hypokalemic periodic paralysis | Mutation | SCN4A
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