ArticleKorean journal of pediatrics2011
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.
Article in Korean journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.Advances in experimental medicine and biology · 2026Article
- Novel compound heterozygous mutations inHeliyon · 2024Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Absence of 2899C<T Mutation in the WNK4 Gene in a Free-Ranging Lion (Animals : an open access journal from MDPI · 2022Article
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Thyroxine-induced periodic paralysis: a rare complication of nutritional supplements.BMJ case reports · 2018Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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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 (CACNA1Sp.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.
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