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Channelopathies

The causes of many human diseases remain unknown and often the association between diseases depends exclusively on establishing common symptoms. However, advances in molecular medicine have shown that diverse diseases are associated with ion channel dysfunction and can be grouped together as "Channelopathies".
Included amongst the channelopathies are intermittent diseases in otherwise healthy and active people (eg, epilepsy, migraine, arrhytmia), debilitating illnesses (such as muscular disorders, deafness, blindness, Rasmussen's encephalitis), and even some rare disorders like periodic paralysis.
The association of such diverse diseases with channel dysfunction has been made possible by combining electrophysiological, molecular and genetic studies. These studies have also dramatically increased our understanding of how ion channels function under normal circumstances.
Given the large diversity of ion channels, it seems likely that more diseases will be recognised as channelopathies requiring the detailed characterisation of more ion channels.
The causes of channelopathies are as varied as the diseases themselves and genetic, autoimmune, toxic, or iatrogenic mechanisms may all be involved. This not only hinders the study of these diseases but it also makes the clinical diagnosis of these diseases problematic.
the potential to increase our understanding of complex biological processes and pathologies is greatly magnified as is our capacity to develop new therapeutic agents
Presently the most common cause of channelopathies are mutations in genes encoding for ion channel proteins. However, mutations in associated proteins, alterations in ion channel expression, or changes in the activity of non-mutated channel genes or associated proteins can also produce acquired channelopathies.
To understand the pathophysiology of these conditions we must obtain more information on channel structure and function. Structure-function relationships and ion channel electrophysiology cannot be separated from the genetic and clinical description of ion channelopathies.
Recent advances in determining atomic channel structure, coupled to the power of biophysical techniques to study these proteins, increases our potential to understand complex biological processes and pathologies, and our capacity to develop new therapeutic agents.