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 …

Background GSK3β is an intracellular regulatory kinase that is dysregulated in multiple
tissues in type 1 myotonic dystrophy, a rare neuromuscular disorder that manifests at any …

Treatment effects will differ from one study to another evaluating similartherapies, bothbecauseofrandomvariationbetweenindi…
patients and owing to true differences that exist because of other differences …

Objective To assess mexiletine's long-term safety and effect on 6-minute walk distance in a
well-defined cohort of patients with myotonic dystrophy type 1 (DM1). Methods We …

In this article we briefly examine the unique features of Single-Case Designs (SCDs)(studies
in a single participant), their history and current trends, and real-world clinical applications …

Clinicians and patients often try a treatment for an initial period to inform longer‐term
therapeutic decisions. A more rigorous approach involves N‐of‐1 trials. In these single …

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 …

Aims While mexiletine has been used for over 40 years for prevention of (recurrent)
ventricular arrhythmias and for myotonia, patient access has recently been critically …

Background: N-of-1 trials offer an innovative approach to delivering personalized clinical
care together with population-level research. While increasingly used, these methods have …