ReviewPflugers Archiv : European journal of physiology2010
Sodium channelopathies of skeletal muscle result from gain or loss of function.
Review in Pflugers Archiv : European journal of physiology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 1 of them a synthesis that pooled it.
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Who cites it
77 citing papers in PubMed, 1 synthesis or guideline pooled it, 149 citations in OpenAlex.
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- DICL: a manually curated database of ion channels and ligands as a useful platform for drug discovery targeting ion channels.Journal of cheminformatics · 2026Article
- A clinical prediction rule for myotonia permanens associated with theCurrent research in neurobiology · 2026Article
- Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita.Scientific reports · 2025Article
- Mechanisms underlying the distinct K+ dependencies of periodic paralysis.The Journal of general physiology · 2025Article
- Voltage-gated sodium channels in excitable cells as drug targets.Nature reviews. Drug discovery · 2025Review
- Normal locomotion in zebrafish lacking the sodium channel NaV1.4 suggests that the need for muscle action potentials is not universal.PLoS biology · 2025Article
- Potassium-sensitive loss of muscle force in the setting of reduced inward rectifier KProceedings of the National Academy of Sciences of the United States of America · 2025Article
- Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutationFrontiers in physiology · 2025Article
- Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.Molecular biology reports · 2024Article
- Distinguishing Loss-of-Function and Gain-of-FunctionNeurology. Genetics · 2023Article
- Predicting functional effects of ion channel variants using new phenotypic machine learning methods.PLoS computational biology · 2023Article
- Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.Journal of neurology · 2022Article
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- Voltage-Gated Sodium Channel Modulation by a New Spider Toxin Ssp1a Isolated From an Australian Theraphosid.Frontiers in pharmacology · 2021Article
- Two for the Price of One: Heterobivalent Ligand Design Targeting Two Binding Sites on Voltage-Gated Sodium Channels Slows Ligand Dissociation and Enhances Potency.Journal of medicinal chemistry · 2020Article
- Preclinical pharmacological in vitro investigations on low chloride conductance myotonia: effects of potassium regulation.Pflugers Archiv : European journal of physiology · 2020Article
- Identification of aThe Journal of international medical research · 2020Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Five hereditary sodium channelopathies of skeletal muscle have been identified. Prominent symptoms are either myotonia or weakness caused by an increase or decrease of muscle fiber excitability. The voltage-gated sodium channel NaV1.4, initiator of the muscle action potential, is mutated in all five disorders. Pathogenetically, both loss and gain of function mutations have been described, the latter being the more frequent mechanism and involving not just the ion-conducting pore, but aberrant pores as well. The type of channel malfunction is decisive for therapy which consists either of exerting a direct effect on the sodium channel, i.e., by blocking the pore, or of restoring skeletal muscle membrane potential to reduce the fraction of inactivated channels.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.