ArticleThe Journal of physiology2009
Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.
Article in The Journal of physiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Functional and pharmacological characterization of theEpilepsy & behavior reports · 2026Article
- Myotonia: Recognition, Evaluation, and Differential Diagnosis.Muscle & nerve · 2026Review
- Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutationFrontiers in physiology · 2025Article
- Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents.The Journal of general physiology · 2023Article
- Article
- Substitutions of the S4DIV R2 residue (R1451) in NaScientific reports · 2018Article
- N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.The Journal of physiology · 2017Article
- Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants.The Journal of physiology · 2015Article
- The Sick and the Weak: Neuropathies/Myopathies in the Critically Ill.Physiological reviews · 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
- Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.The Journal of general physiology · 2013Article
- Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.The Journal of physiology · 2012Article
- Skeletal muscle na channel disorders.Frontiers in pharmacology · 2011Article
- Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.Current opinion in neurology · 2009Review
- Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Q270K mutation of the skeletal muscle Na(+) channel alpha subunit (Nav1.4) causes atypical paramyotonia with a striking sensitivity to cold. Attacks of paralysis and a drop in the compound muscle action potential (CMAP) are exclusively observed at cold. To understand the pathogenic process, we studied the consequences of this mutation on channel gating at different temperatures. WT or Q270K recombinant Nav1.4 channels fused at their C-terminal end to the enhanced green fluorescent protein (EGFP) were expressed in HEK-293 cells. Whole-cell Na(+) currents were recorded using the patch clamp technique to examine channel gating at 30 degrees C and after cooling the bathing solution to 20 degrees C. Mutant channel fast inactivation was impaired at both temperatures. Cooling slowed the kinetics and enhanced steady-state fast inactivation of both mutant and WT channels. Mutant channel slow inactivation was fairly comparable to that of the WT at 30 degrees C, but became clearly abnormal at 20 degrees C. Cooling enhanced slow inactivation in the WT by shifting the voltage dependence toward hyperpolarization, but induced the opposite effect in the mutant. Destabilization of mutant channel slow inactivation in combination with defective fast inactivation is expected to increase the susceptibility to prolonged membrane depolarization, and can ultimately lead to membrane inexcitability and paralysis at cold. Thus, abnormal temperature sensitivity of slow inactivation can be a determinant pathogenic factor, and should therefore be more widely considered in thermosensitive Na(+) channelopathies.
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