Hypokalemic periodic paralysis (HypoPP) and malignant hyperthermia (MH) are autosomal‐
dominant genetically heterogeneous ion channelopathies. MH has been described in …

The voltage-gated sodium channel Na v 1.6 is associated with more than 300 cases of
epileptic encephalopathy. Na v 1.6 epilepsy-causing mutations are spread over the entire …

Mef2 transcription factors play a crucial role in cardiac and skeletal muscle differentiation.
We found that Mef2d is highly expressed in the mouse retina and its loss causes …

Objective To ascertain the presenting symptoms of children with skeletal muscle
channelopathies to promote early diagnosis and treatment. Study design Retrospective case …

Ca 2+ channels are voltage-gated ion channels present in the membrane of most excitable
cells. The nomenclature for Ca 2+ channels was proposed by [131] and approved by the NC …

The voltage-gated sodium channel Nav1. 4 is a major actor in the excitability of skeletal
myofibers, driving the muscle force in response to nerve stimulation. Supporting further this …

Several human diseases, including hypokalemic periodic paralysis and Timothy syndrome,
are caused by mutations in voltage-gated calcium channels. The effects of these mutations …

Objective: To test the hypothesis that inhibition of the Na-K-2Cl transporter with bumetanide
will reduce the susceptibility to decreases in muscle force in a mouse model of hypokalemic …

The familial periodic paralyses (PP) were commonly considered to be benign diseases
since frequency and severity of the paralytic attacks decrease in adulthood. However, with …

We examined mutations that disrupt muscle activation in Caenorhabditis elegans. Fifteen of
17 of these genes were identified previously and we describe new mutations in three of …