Several neurological diseases-including neuromuscular disorders, movement disorders,
migraine, and epilepsy-are caused by inherited mutations of ion channels. The list of these" …

Hypokalaemic periodic paralysis is typically associated with mutations of voltage sensor
residues in calcium or sodium channels of skeletal muscle. To date, causative sodium …

The myotonias and periodic paralyses are a diverse group of skeletal muscle disorders that
share a common pathophysiological mechanism: all are caused by derangements in the …

Hypokalaemic periodic paralysis (hypoPP) is the archetypal skeletal muscle channelopathy
caused by dysfunction of one of two sarcolemmal ion channels, either the sodium channel …

Epilepsy is a common neurological disease and encompasses a variety of disorders with
paroxysms. Although there is a genetic component in the pathogenesis of epilepsy, the …

Channels involved in the influx and intracellular mobilization of calcium have been
implicated as targets of diverse genetic and immune‐mediated neurological diseases …

S4 voltage–sensor mutations in CaV1. 1 and NaV1. 4 channels cause the human muscle
disorder hypokalemic periodic paralysis (HypoPP). The mechanism whereby these …

The periodic paralyses are hereditary muscle diseases which cause both episodic and
permanent weakness. Permanent weakness may include both reversible and fixed …

Abstract Back Cover Copy This third edition of The Genetics of Neurological Disorders
incorporates the recent advances in genetics and molecular genetics into this …

Key points Missense mutations in the gene encoding the α1 subunit of the skeletal muscle
voltage‐gated Ca2+ channel induce type 1 hypokalaemic periodic paralysis, a poorly …