Neurological disorders caused by inherited ion-channel mutations.
Several neurological diseases-including neuromuscular disorders, movement disorders, migraine, and epilepsy-are caused by inherited mutations of ion channels. The list of these "channelopathies" is expanding rapidly, as is the phenotypic range associated with each channel. At present the best understood channelopathies are those that affect muscle-fibre excitability. These channelopathies produce a range of disorders which include: periodic paralysis, myotonias, malignant hyperthermia, and congenital myasthenic syndromes. By contrast, the mechanisms of diseases caused by mutations of ion channels that are expressed in neurons are less well understood. However, as for the muscle channelopathies, a striking feature is that many neuronal channelopathies cause paroxysmal symptoms. This review summarises the clinical features of the known neurological channelopathies, within the context of the functions of the individual ion channels.
Kullmann
Dimitri M
DM
Institute of Neurology, University College London, and the National Hospital for Neurology and Neurosurgery, London, UK. d.kullmann@ion.ucl.ac.uk
Hanna
Michael G
MG
D000818:Animals; D006801:Humans; D007473:Ion Channels / Q000737:chemistry / Q000235:genetics*; D009154:Mutation; D009422:Nervous System Diseases / Q000235:genetics*
D007473:Ion Channels