The congenital myopathies are a group of early-onset, non-dystrophic neuromuscular
conditions with characteristic muscle biopsy findings, variable severity and a stable or slowly …

Voltage-gated sodium channels initiate action potentials in nerve, skeletal muscle, and other
electrically excitable cells. Mutations in them cause a wide range of diseases. These …

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

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

The membrane of cells and intracellular organelles is 2 composed of two layers of lipids,
preventing the free “in 3 and out” movement of water and solutes that are necessary 4 for …

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

Voltage-gated sodium (Nav) channels are essential for the rapid upstroke of action
potentials and the propagation of electrical signals in nerves and muscles. Defects of Nav …

Congenital myopathies are a group of genetic muscle disorders characterized clinically by
hypotonia and weakness, usually from birth, and a static or slowly progressive clinical …

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 …

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 …