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

Voltage-gated ion channels share a common structure typified by peripheral, voltage sensor
domains. Their S4 segments respond to alteration in membrane potential with translocation …

The sarcolemmal voltage gated sodium channel NaV1. 4 conducts the key depolarizing
current that drives the upstroke of the skeletal muscle action potential. It contains four …

Familial hypokalaemic periodic paralysis is a rare skeletal muscle disease caused by the
dysregulation of sarcolemmal excitability. Hypokalaemic periodic paralysis is characterized …

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 …

Inherited neuromuscular disorders (INMD) are a heterogeneous group of rare diseases that
involve muscles, motor neurons, peripheral nerves or the neuromuscular junction. Several …

Although several ionic mechanisms are known to control rate and regularity of the slow
pacemaker in dopamine (DA) neurons, the core mechanism of pacing is controversial. Here …

Periodic paralysis is a rare, dominantly inherited disorder of skeletal muscle in which
episodic attacks of weakness are caused by a transient impairment of fiber excitability …

Myotonia congenita and hypokalemic periodic paralysis type 2 are both rare genetic
channelopathies caused by mutations in the CLCN1 gene encoding voltage-gated chloride …

Periodic paralyses (PP) are characterized by episodic muscle weakness and are classified
into the distinct hyperkalaemic (hyperPP) and hypokalaemic (hypoPP) forms. The …