Channelopathy

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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. Genetic 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.[1]

Neurological channelopathies[edit | edit source]

Central nervous system channelopathies[edit | edit source]

See also: central nervous system

Channel Gene Disease Notes
Sodium channel SCN1A Epilepsy, migraine
Sodium channel SCN1B Epilepsy
Sodium channel SCN2A Epilepsy
Potassium channel KCNQ2 Epilepsy
Potassium channel KCNQ3 Epilepsy
Potassium channel KCNMA1 Epilepsy with dyskinesia
Potassium channel KCNA1 Episodic ataxia
Potassium channel KCNC3 Ataxia
Calcium channel CACNA1H Epilepsy
Calcium channel CACNA1A Episodic or progressive ataxia, migraine, epilepsy
GABAA receptor GABRA1 Epilepsy
GABAA receptor GABRB3 Epilepsy
GABAA receptor GABRG2 Epilepsy
Nicotinic ACh receptor CHRNA2 Epilepsy
Nicotinic ACh receptor CHNRA4 Epilepsy
Nicotinic ACh receptor CHRNB2 Epilepsy
Glycine receptor GLRA1 Hyperekplexia
Glycine receptor GLRB Hyperekplexia[2]

Peripheral nerve channelopathies[edit | edit source]

Channel Gene Disease Notes
Sodium channel SCN9A Excessive pain, insensitivity to pain Associated with one particular severe form of Fibromyalgia[3][2]

Muscle Channelopathies[edit | edit source]

Channel Gene Disease Notes
Sodium channel SCN4A Periodic paralysis, myotonia
Potassium channel KCNJ2 Periodic paralysis
Potassium channel KCNJ18 Periodic paralysis
Calcium channel CACNA1S Periodic paralysis
Chloride channel CLCN1 Myotonia
Nicotinic ACh receptor CHRNA1 Congenital myasthenic syndromes
Nicotinic ACh receptor CHRNB1 Congenital myasthenic syndromes
Nicotinic ACh receptor CHRNG Congenital myasthenic syndromes
Nicotinic ACh receptor CHRND Congenital myasthenic syndromes
Nicotinic ACh receptor CHRNE Congenital myasthenic syndromes [2]

Pain channelopathies[edit | edit source]

Gene SCN9A has been found to be associated with one particular severe form of fibromyalgia,[3] and with other pain-related conditions including a congenital inability to feel pain and extreme pain syndromes.[4]

ME / CFS[edit | edit source]

Symptom recognition[edit | edit source]

Channelopathy research is referenced in the International Consensus Criteria Primer.

Notable studies[edit | edit source]

  • 2000, Comparative analysis of lymphocytes in lymph nodes and peripheral blood of patients with chronic fatigue syndrome[5]
  • 2004, Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions[6]
  • 2007, Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response[7]
  • 2010, Neurological channelopathies: new insights into disease mechanisms and ion channel function[2]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

  1. ↑ Genetics Home Reference | NIH. "What is a gene mutation and how do mutations occur?". Genetics Home Reference. Retrieved November 30, 2018.
  2. ↑ 2.0 2.1 2.2 2.3 Kullmann, Dimitri M.; Waxman, Stephen G. (May 28, 2010). "Neurological channelopathies: new insights into disease mechanisms and ion channel function". The Journal of Physiology. 588 (11): 1823–1827. doi:10.1113/jphysiol.2010.190652. ISSN 0022-3751. PMC 2901970. PMID 20375141.
  3. ↑ 3.0 3.1 Vargas-Alarcon, G; Alvarez-Leon, E; Fragoso, JM; Vargas, A; Martinez, A; Vallejo, M; Martinez-Lavin, M (2012). "A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia". J Rheumatol Suppl. 19: 13–23. doi:10.1186/1471-2474-13-23. PMC 3310736. PMID 22348792.
  4. ↑ Cannon, Ashley; Kurklinsky, Svetlana; Guthrie, Kimberly J.; Riegert-Johnson, Douglas L. (2016). "Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder". Case Reports in Neurological Medicine: 1–7. doi:10.1155/2016/9212369. ISSN 2090-6668. PMC 4972908. PMID 27525141.
  5. ↑ Fletcher, Mary Ann; Maher, Kevin; Patarca-Montero, Roberto; Klimas, Nancy (January 2000). "Comparative Analysis of Lymphocytes in Lymph Nodes and Peripheral Blood of Patients with Chronic Fatigue Syndrome". Journal of Chronic Fatigue Syndrome. 7 (3): 65–75. doi:10.1300/j092v07n03_06. ISSN 1057-3321.
  6. ↑ Klimas, Nancy G.; Koneru, Anne O'Brien (December 2007). "Chronic fatigue syndrome: inflammation, immune function, and neuroendocrine interactions". Current Rheumatology Reports. 9 (6): 482–487. ISSN 1523-3774. PMID 18177602.
  7. ↑ Nijs, Jo; De Meirleir, Kenny; Meeus, Mira; McGregor, Neil R.; Englebienne, Patrick (2004). "Chronic fatigue syndrome: intracellular immune deregulations as a possible etiology for abnormal exercise response". Medical Hypotheses. 62 (5): 759–765. doi:10.1016/j.mehy.2003.11.030. ISSN 0306-9877. PMID 15082102.
  8. ↑ Kim, June-Bum (January 2014). "Channelopathies". Korean Journal of Pediatrics. 57 (1): 1–18. doi:10.3345/kjp.2014.57.1.1. ISSN 1738-1061. PMC 3935107. PMID 24578711.
  9. ↑ Mulley, SF; Scheffer, IE; Petrou; Berkovic (April 2003). "Channelopathies as a genetic cause of epilepsy". Current Opinion in Neurology. 16 (2): 171–6. doi:10.1097/00019052-200304000-00009. PMID 12644745. Retrieved April 30, 2009.
  10. ↑ Zuberi, S.M.; Hanna, M.G. (March 1, 2001). "Ion channels and neurology". Archives of Disease in Childhood. 84 (3): 277–280. doi:10.1136/adc.84.3.277. ISSN 0003-9888. PMID 11207185.
  11. ↑ Hunter, JV; Moss, AJ (January 2009). "Seizures and arrhythmias: Differing phenotypes of a common channelopathy?". Neurology (journal). 72 (3): 208–9. doi:10.1212/01.wnl.0000339490.98283.c5. PMID 19153369. Retrieved April 30, 2009.
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