title: Neurological channelopathies: new insights into disease mechanisms and ion channel function.
abstract: Inherited mutations of ion channels provide unique insights into the mechanisms of many neurological diseases. However, they also provide a wealth of new information on the fundamental biology of ion channels and on neuron and muscle function. Ion channel genes are continuing to be discovered by positional cloning of disease loci. And some mutations provide unique tools to manipulate signalling cascades, which cannot be achieved by pharmacological intervention. Here we highlight some unanswered questions, and some promising areas for research that will likely lead to a fuller understanding of the link from molecular lesion to disease.
authors.affiliation: Institute of Neurology, University College London, Department of Clinical Neurology, Queen Square, London WC1N 3BG, UK. d.kullmann@ion.ucl.ac.uk
authors.forename: Dimitri M
authors.initials: DM
authors.lastname: Kullmann
authors.forename: Stephen G
authors.initials: SG
authors.lastname: Waxman
mesh_terms: D000818:Animals; D053447:Channelopathies / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D018450:Disease Progression; D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000502:physiology*; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D009474:Neurons / Q000502:physiology*
chemical_list: D007473:Ion Channels