ArticleFrontiers in neurology2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Article in Frontiers in neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Adult-Onset Hypokalemic Periodic Paralysis With the p.Arg672Cys Variant in the SCN4A Gene: A Case Report.Cureus · 2026Article
- Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.Journal of molecular neuroscience : MN · 2026Article
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Authors and funding
9 authors.
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Abstract
Introduction: Genetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan. Methods: We obtained a Japanese nationwide case series of 119 index patients (108 men and 11 women) clinically suspected of periodic paralysis, and a gene panel analysis, targeting Results: From 34 cases, 25 pathogenic/likely pathogenic/unknown significance variants were detected in Discussion: The low molecular diagnostic rate and specific genetic proportion of the present study highlight the etiological complexity of patients with periodic paralysis in Japan.
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