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Neurological channelopathies: new insights into disease mechanisms and ion channel function
Author(s) -
Kullmann Dimitri M.,
Waxman Stephen G.
Publication year - 2010
Publication title -
the journal of physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.802
H-Index - 240
eISSN - 1469-7793
pISSN - 0022-3751
DOI - 10.1113/jphysiol.2010.190652
Subject(s) - ion channel , neuroscience , channelopathy , disease , positional cloning , function (biology) , biology , gain of function , computational biology , bioinformatics , mutation , genetics , gene , medicine , phenotype , pathology , receptor
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.