Human Molecular Genetics, Vol 6, 1679-1685, Copyright © 1997 by Oxford University Press
DE Bulman
Ion channels are part of a large family of macromolecules whose functions
include the control and maintenance of electrical potential across cell
membranes, secretion and signal transduction. Close inspection of the
physiological processes involved in channel function and the secondary
structure of various ion channels has served as a basis for subdividing ion
channels into a number of superfamilies. The voltage-gated ion channels are
one of these superfamilies. Recent work has shown that mutations in various
ion channel genes are responsible for a number of neuromuscular and
neurological disorders. Correlation of the various mutations with the
clinical phenotype is providing us with insight into the pathophysiology of
these channel proteins. Interestingly, different mutations within the same
gene may cause quite distinct clinical disorders, while mutations in
different channel genes may result in very similar phenotypes (genetic
heterogeneity). Examples of phenotypic variation and genetic heterogeneity
are presented in the context of the periodic paralytic disorders of
skeletal muscle, episodic ataxia, migraine, long QT syndrome and paroxysmal
dyskinesia. Some of these disorders are known to be caused by mutations in
ion channel genes, while in the episodic movement disorders, ion channel
genes are considered excellent candidate genes.
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Phenotype variation and newcomers in ion channel disorders
Ottawa General Hospital Research Institute and Division of Neurology, Ottawa General Hospital, Ontario, Canada. dbulman@ogh.on.ca
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