Neurological channelopathies: new insights into disease mechanisms and ion channel function

J Physiol. 2010 Jun 1;588(Pt 11):1823-7. doi: 10.1113/jphysiol.2010.190652. Epub 2010 Apr 7.


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.

Publication types

  • Review

MeSH terms

  • Animals
  • Channelopathies / genetics
  • Channelopathies / pathology*
  • Channelopathies / physiopathology
  • Disease Progression
  • Humans
  • Ion Channels / genetics
  • Ion Channels / physiology*
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology*
  • Nervous System Diseases / physiopathology
  • Neurons / physiology*


  • Ion Channels