In the human genome more than 400 genes encode ion channels, which are
transmembrane proteins mediating ion fluxes across membranes. Being expressed in all …

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 …

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Importance In rare diseases it is difficult to achieve high-quality evidence of treatment
efficacy because of small cohorts and clinical heterogeneity. With emerging treatments for …

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 …

In 1970, the study of the pathomechanisms underlying myotonia in muscle fibers isolated
from myotonic goats highlighted the importance of chloride conductance for skeletal muscle …

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

Thousands of voltage-gated sodium (Na v) channel variants contribute to a variety of
disorders, including epilepsy, cardiac arrhythmia, and pain disorders. Yet, the effects of more …