ArticleJournal of Korean medical science2007
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Article in Journal of Korean medical science, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- Temperature-induced symptoms in adolescents and adults with spinal muscular atrophy.Journal of neuromuscular diseases · 2026Article
- Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.Advances in experimental medicine and biology · 2026Article
- Unilateral Upper Extremity Paralysis Secondary to Hypokalemia and Fasting: A Case Report.Clinical practice and cases in emergency medicine · 2025Article
- Novel compound heterozygous mutations inHeliyon · 2024Article
- Prevalence and risk factors of low vitamin D levels in children and adolescents with familial hypokalemic periodic paralysis.European journal of pediatrics · 2024Article
- Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.Electrolyte & blood pressure : E & BP · 2021Article
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.Frontiers in pharmacology · 2016Review
- The large-conductance calcium-activated potassium channel holds the key to the conundrum of familial hypokalemic periodic paralysis.Korean journal of pediatrics · 2014Article
- Channelopathies.Korean journal of pediatrics · 2014Review
- Pathophysiological role of omega pore current in channelopathies.Frontiers in pharmacology · 2012Article
- Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.Korean journal of pediatrics · 2011Article
- Familial hyperkalemic periodic paralysis caused by a de novo mutation in the sodium channel gene SCN4A.Korean journal of pediatrics · 2011Article
- Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.Frontiers in pharmacology · 2011Article
- Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?The Journal of physiology · 2010Review
- Practical aspects in the management of hypokalemic periodic paralysis.Journal of translational medicine · 2008Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of the known mutations and to specify the clinical features associated with the identified mutations. DNA analysis identified known mutations in 12 families: 9 (75%) were linked to the CACNA1S gene and 3 (25%) to the SCN4A gene. The Arg528His mutation in the CACNA1S gene was found to be predominant in these 12 families. Additionally, we have detected one novel silent exonic mutation (1950C>T) in the SCN4A gene. As for a SCN4A Arg669His mutation, incomplete penetrance in a woman was observed. Characteristic clinical features were observed both in patients with and without mutations. This study presents comprehensive data on the genotype and phenotype of Korean families with HOPP.
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