Familial disorders of skeletal muscle excitability were initially described early in the last
century and are now known to be caused by mutations of voltage-gated ion channels. The …

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

Purpose: Whole-exome sequencing (WES) is increasingly used as a diagnostic tool in
medicine, but prior reports focus on predominantly pediatric cohorts with neurologic or …

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 …

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 …

Evidence accumulated over recent years has shown that genetic neurological
channelopathies can cause many different neurological diseases. Presentations relating to …

Background Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal
infant death in high-income countries. Central respiratory system dysfunction seems to …

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 …

Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle
chloride and sodium ion channels with considerable phenotypic overlap between diseases …

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 …