Hereditary channelopathies in neurology.
Ion channelopathies are caused by malfunction or altered regulation of ion channel proteins due to hereditary or acquired protein changes. In neurology, main phenotypes include certain forms of epilepsy, ataxia, migraine, neuropathic pain, myotonia, and muscle weakness including myasthenia and periodic paralyses. The total prevalence of monogenic channelopathies in neurology is about 35:100,000. Susceptibility-related mutations further increase the relevance of channel genes in medicine considerably. As many disease mechanisms have been elucidated by functional characterization on the molecular level, the channelopathies are regarded as model disorders for pathogenesis and treatment of non-monogenic forms of epilepsy and migraine. As more than 35% of marketed drugs target ion channels, there is a high chance to identify compounds that counteract the effects of the mutations.
Jurkat-Rott
Karin
K
Institute of Applied Physiology, Ulm University, Ulm, Germany. karin.jurkat-rott@uni-ulm.de
Lerche
Holger
H
Weber
Yvonne
Y
Lehmann-Horn
Frank
F
D001259:Ataxia / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D020386:Isaacs Syndrome / Q000235:genetics; D008305:Malignant Hyperthermia / Q000235:genetics; D008881:Migraine Disorders / Q000235:genetics; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics; D020512:Myopathy, Central Core / Q000235:genetics; D009224:Myotonia Congenita / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics*; D009437:Neuralgia / Q000235:genetics; D010245:Paralyses, Familial Periodic / Q000235:genetics; D035583:Rare Diseases / Q000235:genetics*; D012021:Reflex, Abnormal / Q000235:genetics; D013216:Reflex, Startle / Q000235:genetics
D007473:Ion Channels