ArticleJournal of molecular medicine (Berlin, Germany)2005
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
Article in Journal of molecular medicine (Berlin, Germany), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 50 citations in OpenAlex.
- Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.Advances in experimental medicine and biology · 2026Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.Scientific reports · 2022Article
- Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.Neurogenetics · 2022Article
- Contribution of mitochondrial gene variants in diabetes and diabetic kidney disease.Frontiers in endocrinology · 2022Article
- Recurrent thyrotoxic periodic paralysis with normokalemia in a 36-year-old man: A case report.Clinical case reports · 2021Article
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.BMC neurology · 2019Article
- Stac3 enhances expression of human CaThe Journal of general physiology · 2018Article
- Novel heterozygous mutation c.4282G>T in theExperimental and therapeutic medicine · 2015Article
- A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban · 2015Article
- Article
- A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Journal of molecular neuroscience : MN · 2012Article
- Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?The Journal of physiology · 2010Review
- The role of CACNA1S in predisposition to malignant hyperthermia.BMC medical genetics · 2009Article
- Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.Neurology · 2009Article
- A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.Human genetics · 2008Article
- Identification and functional characterization of a novel splicing mutation in RP gene PRPF31.Biochemical and biophysical research communications · 2008Article
- Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2007Review
- Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.Journal of human genetics · 2007Article
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16 authors at 4 institutions in 1 country.
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Abstract
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder which is characterized by periodic attacks of muscle weakness associated with a decrease in the serum potassium level. The skeletal muscle calcium channel alpha-subunit gene CACNA1S is a major disease-causing gene for HypoPP, however, only three specific HypoPP-causing mutations, Arg528His, Arg1,239His and Arg1,239Gly, have been identified in CACNA1S to date. In this study, we studied a four-generation Chinese family with HypoPP with 43 living members and 19 affected individuals. Linkage analysis showed that the causative mutation in the family is linked to the CACNA1S gene with a LOD score of 6.7. DNA sequence analysis revealed a heterozygous C to G transition at nucleotide 1,582, resulting in a novel 1,582C-->G (Arg528Gly) mutation. The Arg528Gly mutation co-segregated with all affected individuals in the family, and was not present in 200 matched normal controls. The penetrance of the Arg528Gly mutation was complete in male mutation carriers, however, a reduced penetrance of 83% (10/12) was observed in female carriers. No differences were detected for age-at-onset and severity of the disease (frequency of symptomatic attacks per year) between male and female patients. Oral intake of KCl is effective in blocking the symptomatic attacks. This study identifies a novel Arg528Gly mutation in the CACNA1S gene that causes HypoPP in a Chinese family, expands the spectrum of mutations causing HypoPP, and demonstrates a gender difference in the penetrance of the disease.
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