Changes of Resurgent Na⁺ Currents in the Na_v1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.

ABSTRACT: Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Na_v1.4 have been reported to be responsible for sodium channel myotonia (SCM). The Na_v1.4 channel is expressed in skeletal muscles, and its related channelopathies affect skeletal muscle excitability, which can manifest as SCM, paramyotonia and periodic paralysis. In this study, the missense mutation p.V445M was identified in two individual families with MC. To determine the functional consequences of having a mutated Na_v1.4 channel, whole-cell patch-clamp recording of transfected Chinese hamster ovary cells was performed. Evaluation of the transien

SUBMITTER: Huang CW 

PROVIDER: S-EPMC7177622 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature