ArticleNeurology2011
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.
Article in Neurology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.Journal of neuromuscular diseases · 2021Pooled it
- Review
- Review
- Article
- ELUCIDATING THE DIFFERENTIAL IMPACTS OF EQUIVALENT GATING-CHARGE MUTATIONS IN VOLTAGE-GATED SODIUM CHANNELS.bioRxiv : the preprint server for biology · 2024Article
- Pathogenic gating pore current conducted by autism-related mutations in the NaProceedings of the National Academy of Sciences of the United States of America · 2024Article
- Article
- Periodic paralysis.Handbook of clinical neurology · 2024Review
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Gating pore currents occur in CaV1.1 domain III mutants associated with HypoPP.The Journal of general physiology · 2021Article
- Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.Frontiers in neurology · 2021Review
- New Challenges Resulting From the Loss of Function of NaFrontiers in pharmacology · 2021Review
- Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.Frontiers in pharmacology · 2020Review
- Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.Brain communications · 2020Article
- Article
- A leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy.Scientific reports · 2018Article
- NaScientific reports · 2018Article
- Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaScientific reports · 2018Article
- Spider toxin inhibits gating pore currents underlying periodic paralysis.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Stac3 enhances expression of human CaThe Journal of general physiology · 2018Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHypokalemic periodic paralysis (HypoPP) is associated with mutations in either the Ca(V)1.1 calcium channel or the Na(V)1.4 sodium channel. Some Na(V)1.4 HypoPP mutations have been shown to cause an anomalous inward current that may contribute to the attacks of paralysis. Herein, we test whether disease-associated Na(V)1.4 mutations in previously untested homologous regions of the channel also give rise to the anomalous current.
methodsThe functional properties of mutant Na(V)1.4 channels were studied with voltage-clamp techniques in an oocyte expression system.
resultsThe HypoPP mutation Na(V)1.4-R1132Q conducts an anomalous gating pore current, but the homologous R1448C mutation in paramyotonia congenita does not.
conclusionsGating pore currents arising from missense mutations at arginine residues in the voltage sensor domains of Na(V)1.4 are a common feature of HypoPP mutant channels and contribute to the attacks of paralysis.
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