Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

ABSTRACT:

Background

Missense mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. The mechanistic basis for the phenotypic variability of these allelic disorders of muscle excitability remains unknown. An atypical phenotype with cold-induced hypokalemic paralysis and myotonia at warm temperatures was reported to segregate with the P1158S mutation.

Objective

This study extends the functional characterization of the P1158S mutation and tests the specific hypothesis that impairment of Na channel slow inactivation is a common feature of periodic paralysis.

Methods

Mutant NaV1.4 channels (P1158S) were transiently expressed in human embryonic kidney cells and character

SUBMITTER: Webb J 

PROVIDER: S-EPMC4094148 | biostudies-literature | 2008 Mar

REPOSITORIES: biostudies-literature