ArticleThe Journal of physiology1998
Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
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 13 papers.
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13 citing papers in PubMed, 35 citations in OpenAlex.
- Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.Journal of neurology · 2022Article
- Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.Scientific reports · 2020Article
- Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.Neuromuscular disorders : NMD · 2015Article
- The Domain II S4-S5 Linker in Nav1.9: A Missense Mutation Enhances Activation, Impairs Fast Inactivation, and Produces Human Painful Neuropathy.Neuromolecular medicine · 2015Article
- Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?PloS one · 2013Article
- Skeletal muscle na channel disorders.Frontiers in pharmacology · 2011Article
- Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.Molecular pain · 2007Article
- A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.The Journal of physiology · 2005Article
- Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2004Article
- Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.The Journal of physiology · 2001Article
- Channelopathies: ion channel defects linked to heritable clinical disorders.Journal of medical genetics · 2000Review
- Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1999Article
- Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.Biophysical journal · 1999Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
1. The Ile693Thr mutation of the skeletal muscle Na+ channel alpha-subunit is associated with an unusual phenotype of paramyotonia congenita characterized by cold-induced muscle weakness but no stiffness. This mutation occurs in the S4-S5 linker of domain II, a region that has not been previously implicated in paramyotonia congenita. 2. The Ile693Thr mutation was introduced into the human skeletal muscle Na+ gene for functional expression in human embryonic kidney (HEK) cells. The currents expressed were recorded with the whole-cell voltage-clamp technique. 3. In comparison with wild-type currents, Ile693Thr mutant currents showed a clear shift of about -9 mV in the voltage dependence of activation. 4. In contrast to other mutations of the Na+ channel known to cause paramyotonia congenita, the Ile693Thr mutation did not induce any significant change in the kinetics, nor in the voltage dependence, of fast inactivation. 5. In conclusion, this study provides further evidence of the involvement of the S4-S5 linker in the voltage dependence of Na+ channel activation. The negative shift in the voltage dependence found in this mutation must be associated to other defects, plausibly an impairment of the slow inactivation, to account for the long periods of muscle weakness experienced by the patients.
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