ReviewChannels (Austin, Tex.)2015
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
Review in Channels (Austin, Tex.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 23 citations in OpenAlex.
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Neck muscle hypertrophy in paramyotonia congenita caused by a missense variant in the SCN4A gene (p.Val445Met).Acta neurologica Belgica · 2025Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- Zika virus disrupts gene expression in human myoblasts and myotubes: Relationship with susceptibility to infection.PLoS neglected tropical diseases · 2022Article
- The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.Channels (Austin, Tex.) · 2021Article
- Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.Electrolyte & blood pressure : E & BP · 2021Article
- SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.Frontiers in neurology · 2019Article
- Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.Channels (Austin, Tex.) · 2017Article
- Successful treatment of periodic paralysis with coenzyme Q10: two case reports.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2016Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SCN4A encodes the Nav1.4 channel and mutations in SCN4A lead to different ionic channelopathies. In this study, one sporadic individual of periodic paralysis, one paramyotonia family and 200 normal healthy controls are enrolled. Genomic DNA was extracted from peripheral blood leukocytes, followed by polymerase chain reaction and DNA sequencing of candidate genes, including SCN4A and CACNA1S. As a result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively. Both mutations were not detected in healthy controls. Compared with reported cases, patients with mutation R675Q usually do not present hypokalemic periodic paralysis but hyperkalemic or normokalemic periodic paralysis. The mutation V445M was first reported in Chinese patients with nondystrophic myotonias. In addition, we carried out literature review by summarizing clinical features of the 2 mutations and establish the genotype-phenotype correlations to provide guidance for diagnosis.
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