Channelopathy

Channelopathy diseases are caused by disturbed function of ion channel subunits or the proteins that regulate them. They can be genetic (inherited) or acquired, for example through an autoimmune attack on the channel. Gene testing can be used to identify many of the inherited channelopathy diseases, but since acquired channelopathies only involve gene changes to some types of cell rather than all cells gene testing is not normally used for diagnosis.

Central nervous system channelopathies
See also: central nervous system

Pain channelopathies
Gene SCN9A has been found to be associated with one particular severe form of fibromyalgia, and with other pain-related conditions including a congenital inability to feel pain and extreme pain syndromes.

Symptom recognition
Channelopathy research is referenced in the International Consensus Criteria Primer.

Notable studies

 * 2000, Comparative analysis of lymphocytes in lymph nodes and peripheral blood of patients with chronic fatigue syndrome
 * 2004, Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions
 * 2007, Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response
 * 2010, Neurological channelopathies: new insights into disease mechanisms and ion channel function

Learn More

 * Channelopathies (review article)
 * Channelopathies as a genetic cause of epilepsy


 * Ion Channels and Neurology
 * Advanced Genetic Testing comes to the Pain Clinic to Make a Diagnosis of Paraxysmal Extreme Pain Disorder
 * Seizures and arrhythmias: Differing phenotypes of a common channelopathy?