ArticleBiophysical journal1999
Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
Article in Biophysical journal, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed.
- Structural mechanism of voltage-gated sodium channel slow inactivation.Nature communications · 2024Article
- Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.Biomedicines · 2021Article
- Changes of Resurgent NaInternational journal of molecular sciences · 2020Article
- Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.Brain communications · 2020Article
- Anesthetic management of a patient with sodium-channel myotonia: a case report.JA clinical reports · 2019Article
- A204E mutation in NaScientific reports · 2018Article
- Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.Frontiers in pharmacology · 2015Review
- Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.Channels (Austin, Tex.) · 2015Review
- A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.Human mutation · 2011Article
- Gating behaviour of sodium currents in adult mouse muscle recorded with an improved two-electrode voltage clamp.The Journal of physiology · 2011Article
- Skeletal muscle na channel disorders.Frontiers in pharmacology · 2011Article
- A molecular switch between the outer and the inner vestibules of the voltage-gated Na+ channel.The Journal of biological chemistry · 2010Article
- The outer vestibule of the Na+ channel-toxin receptor and modulator of permeation as well as gating.Marine drugs · 2010Review
- Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.The Journal of physiology · 2009Article
- Speeding the recovery from ultraslow inactivation of voltage-gated Na+ channels by metal ion binding to the selectivity filter: a foot-on-the-door?Biophysical journal · 2007Article
- Tryptophan substitution of a putative D4S6 gating hinge alters slow inactivation in cardiac sodium channels.Biophysical journal · 2005Article
- A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.The Journal of physiology · 2005Article
- Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.The Journal of physiology · 2004Article
- Tryptophan scanning of D1S6 and D4S6 C-termini in voltage-gated sodium channels.Biophysical journal · 2003Article
- Slow inactivation does not block the aqueous accessibility to the outer pore of voltage-gated Na channels.The Journal of general physiology · 2002Article
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Authors and funding
2 authors.
Funding
Abstract
Over 20 different missense mutations in the alpha subunit of the adult skeletal muscle Na channel have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or both. The V445M mutation was recently found in a family with myotonia but no weakness. This mutation in transmembrane segment IS6 is novel because no other disease-associated mutations are in domain I. Na currents were recorded from V445M and wild-type channels transiently expressed in human embryonic kidney cells. In common with other myotonic mutants studied to date, fast gating behavior was altered by V445M in a manner predicted to increase excitability: an impairment of fast inactivation increased the persistent Na current at 10 ms and activation had a hyperpolarized shift (4 mV). In contrast, slow inactivation was enhanced by V445M due to both a slower recovery (10 mV left shift in beta(V)) and an accelerated entry rate (1.6-fold). Our results provide additional evidence that IS6 is crucial for slow inactivation and show that enhanced slow inactivation cannot prevent myotonia, whereas previous studies have shown that disrupted slow inactivation predisposes to episodic paralysis.
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