ArticleNeurogenetics2022
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Article in Neurogenetics, 2022. 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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16 citing papers in PubMed, 24 citations in OpenAlex.
- Steroid-induced Hypokalemic Periodic Paralysis.Annals of African medicine · 2026Article
- ARumenamides as Multitarget Ion Channel Modulators: Insights from Fenestration-Focused Docking, ADMET Profiling, and Molecular Dynamics.International journal of molecular sciences · 2026Article
- Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.Journal of molecular neuroscience : MN · 2026Article
- Review
- Hypokalemic Periodic Paralysis Associated With a RareCase reports in genetics · 2026Article
- Molecular genetics of skeletal muscle channelopathies.Journal of human genetics · 2025Review
- CACNA1S Channelopathy - A Novel Missense Variant Causing Hypokalemic Periodic Paralysis.Indian journal of pediatrics · 2025Article
- Quantitative Muscle MRI to Monitor Disease Progression in Hypokalemic Period Paralysis.Neurology. Genetics · 2024Article
- A Case Report on Hypokalemic Periodic Paralysis.Cureus · 2024Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Hypokalemic periodic paralysis: a 3-year follow-up study.Journal of neurology · 2023Article
- A novel CACNA1S gene variant in a child with hypokalemic periodic paralysis: a case report and literature review.BMC pediatrics · 2023Review
- Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.Frontiers in neurology · 2023Article
- Beyond CBD: Inhibitory effects of lesser studied phytocannabinoids on human voltage-gated sodium channels.Frontiers in physiology · 2023Article
- Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.The Journal of general physiology · 2022Review
- Simulation and Machine Learning Methods for Ion-Channel Structure Determination, Mechanistic Studies and Drug Design.Frontiers in pharmacology · 2022Review
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Authors and funding
12 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial periodic paralyses (PPs) are inherited disorders of skeletal muscle characterized by recurrent episodes of flaccid muscle weakness. PPs are classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. HypoPP is an autosomal dominant disease caused by mutations in the CACNA1S gene, encoding for Cav1.1 channel (HypoPP-1), or SCN4A gene, encoding for Nav1.4 channel (HypoPP-2). In the present study, we included 60 patients with a clinical diagnosis of HypoPP. Fifty-one (85%) patients were tested using the direct sequencing (Sanger method) of all reported HypoPP mutations in CACNA1S and SCN4A genes; the remaining 9 (15%) patients were analyzed through a next-generation sequencing (NGS) panel, including the whole CACNA1S and SCN4A genes, plus other genes rarely associated to PPs. Fifty patients resulted mutated: 38 (76%) cases showed p.R528H and p.R1239G/H CACNA1S mutations and 12 (24%) displayed p.R669H, p.R672C/H, p.R1132G/Q, and p.R1135H SCN4A mutations. Forty-one mutated cases were identified among the 51 patients managed with Sanger sequencing, while all the 9 cases directly analyzed with the NGS panel showed mutations in the hotspot regions of SCN4A and CACNA1S. Ten out of the 51 patients unresolved through the Sanger sequencing were further analyzed with the NGS panel, without the detection of any mutation. Hence, our data suggest that in HypoPP patients, the extension of genetic analysis from the hotspot regions using the Sanger method to the NGS sequencing of the entire CACNA1S and SCN4A genes does not lead to the identification of new pathological mutations.
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