The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain‐of‐
function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene …

Skeletal muscle ion channelopathies (SMICs) are a large heterogeneous group of rare
genetic disorders caused by mutations in genes encoding ion channel subunits in the …

Purpose of review This article aims to review the current and upcoming treatment options of
primary muscle channelopathies including the non-dystrophic myotonias and periodic …

Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but
mexiletine is expensive, has limited availability and several side effects. There is therefore a …

Skeletal muscle channelopathies are rare heterogeneous diseases with marked genotypic
and phenotypic variability. These disorders cause lifetime disability and impact quality of life …

Arrhythmias arise from breakdown of orderly action potential (AP) activation, propagation
and recovery driven by interactive opening and closing of successive voltage-gated ion …

Background: Skeletal muscle ion channelopathies include non-dystrophic myotonias (NDM),
periodic paralyses (PP), congenital myasthenic syndrome, and recently identified congenital …

Muscle Channelopathies : CONTINUUM: Lifelong Learning in Neurology Account Register
Activate Subscription Help Subscribe American Academy of Neurology Login Journal logo …

NaV1. 4 is a voltage-gated sodium channel subtype that is predominantly expressed in
skeletal muscle cells. It is essential for producing action potentials and stimulating muscle …

The voltage-gated sodium channels represent an important target for drug discovery since a
large number of physiological processes are regulated by these channels. In several …