Article
A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 May 2014
Holzherr Boris, Lehmann-Horn Frank, Kuzmenkina Elza, Fan Chunxiang, Jurkat-Rott Karin
Abstract excerpt
We studied the consequences of the Nav1.4 mutation R1448H that is situated in the fourth voltage sensor of the channel and causes paramyotonia, a cold-induced myotonia followed by weakness. Previous work showed that the mutation uncouples inactivation from activation. We measured whole-cell Na(+) currents at 10, 15, 20, and 25°C using HEK293 cells stably transfected with wildtype (WT) and R1448H Na(+) channels. A...
Topics
- Cold Temperature
- Humans
- Ion Channel Gating
- Kidney
- Mutation
- Myotonia
- Patch-Clamp Techniques
- Sodium Channels
- Transfection