ArticleThe Journal of physiology1998
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
Article in The Journal of physiology, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 54 citations in OpenAlex.
- Changes of Resurgent NaInternational journal of molecular sciences · 2020Article
- Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation inFrontiers in neurology · 2020Article
- Sodium Channelopathies of Skeletal Muscle.Handbook of experimental pharmacology · 2018Review
- Channelopathies of skeletal muscle excitability.Comprehensive Physiology · 2015Review
- Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.Frontiers in pharmacology · 2015Review
- Focal and abnormally persistent paralysis associated with congenital paramyotonia.BMJ case reports · 2014Article
- Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?PloS one · 2013Article
- Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.The Journal of physiology · 2012Article
- A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.Human mutation · 2011Article
- Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.The Journal of physiology · 2011Article
- Skeletal muscle na channel disorders.Frontiers in pharmacology · 2011Article
- Sodium channel carboxyl-terminal residue regulates fast inactivation.The Journal of biological chemistry · 2010Article
- Analysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Genes, brain, and behavior · 2009Article
- Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.Neurology · 2008Article
- Differential sialylation modulates voltage-gated Na+ channel gating throughout the developing myocardium.The Journal of general physiology · 2006Article
- K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.Cellular and molecular neurobiology · 2005Article
- A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.The Journal of physiology · 2005Article
- A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2004Article
- Structural effects of an LQT-3 mutation on heart Na+ channel gating.Biophysical journal · 2004Article
- Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.The Journal of physiology · 2001Article
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
1. Missense mutations in the alpha-subunit of the human skeletal muscle sodium channel (hSkM1) have been detected in some heritable forms of myotonia. By recording Na+ currents from cells transfected with cDNA encoding either wild-type or mutant hSkM1, we characterized the functional consequences of two myotonia-associated mutations that lie at the cytoplasmic end of the sixth transmembrane segment in domain II (S804F) or domain III (V1293I). 2. Both mutations caused modest, but unequivocal, alterations in the voltage-dependent gating behaviour of hSkM1. For S804F, the abnormalities were limited to fast inactivation: the persistent Na+ current at the end of a 50 ms depolarization was increased 3-fold, the rate of inactivation from the open state was slowed 2-fold, and the voltage dependence of fast inactivation (h) was shifted by +3 mV. V1293I also disrupted fast inactivation, as evidenced by a 3-fold faster rate of recovery at hyperpolarized potentials (-70 mV). Activation was altered as well for V1293I: the voltage dependence was shifted by -6 mV (hyperpolarized). 3. Slow inactivation was not altered by S804F or V1293I. 4. We conclude that S804F and V1293I are not benign polymorphisms. Either mutation causes detectable alterations in channel gating and, in model simulations, the magnitude of the defects is sufficient to produce runs of myotonic discharges.
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