Ataxia, arrhythmia and ion-channel gene defects.
Ion channels are essential to a wide range of physiological functions including neuronal signaling, muscle contraction, cardiac pacemaking, hormone secretion and cell proliferation. The important role that highly regulated ion influx plays in these processes has been underscored by a recent flurry of discoveries linking ion-channel gene mutations to inherited disorders. Ion channels of many different types have been demonstrated as being causative factors in genetic disease. This review discusses the growing number of disorders associated with genes of the voltage-gated ion channel superfamily, with special focus on those characterized by neurological, neuromuscular, or cardiac dysfunction in humans and mice.
Doyle
J L
JL
Division, Oak Ridge National Laboratory, TN 37831-8077, USA.
Stubbs
L
L
D000818:Animals; D001145:Arrhythmias, Cardiac / Q000235:genetics* / Q000378:metabolism; D001259:Ataxia / Q000235:genetics* / Q000378:metabolism; D015220:Calcium Channels / Q000235:genetics / Q000378:metabolism; D004195:Disease Models, Animal; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000378:metabolism; D008133:Long QT Syndrome / Q000235:genetics; D051379:Mice; D015221:Potassium Channels / Q000235:genetics / Q000378:metabolism; D015222:Sodium Channels / Q000235:genetics / Q000378:metabolism
D015220:Calcium Channels; D007473:Ion Channels; D015221:Potassium Channels; D015222:Sodium Channels