Channelopathy

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Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. They can be genetic or acquired, generally through an autoimmune attack on the channel.

Types[edit | edit source]

Condition Channel type
Alternating hemiplegia of childhood Na⁺/K⁺-ATPase
Bartter syndrome various by type
Brugada syndrome various, by type
Catecholaminergic polymorphic ventricular tachycardia (CPVT) Calcium channel
Congenital hyperinsulinism Inward-rectifier potassium ion channel
Cystic fibrosis Chloride channel
Dravet Syndrome Voltage-gated sodium channel
Episodic Ataxia Voltage-gated potassium channel
Erythromelalgia Voltage-gated sodium channel
Generalized epilepsy with febrile seizures plus Voltage-gated sodium channel
Familial hemiplegic migraine various
Associated with one particular disabling form of Fibromyalgia[1] Voltage-gated sodium channel
Hyperkalemic periodic paralysis Voltage-gated sodium channel
Hypokalemic periodic paralysis Voltage-gated sodium channel

or
voltage-dependent calcium channel (calciumopathy)

Lambert-Eaton myasthenic syndrome Voltage-gated calcium channel
Long QT syndrome

main type Romano-Ward syndrome

various, by type
Malignant hyperthermia Ligand-gated calcium channel
Mucolipidosis type IV Non-selective cation channel
Myotonia congenita Voltage-dependent chloride channel
Neuromyelitis optica Aquaporin-4 water channel
Neuromyotonia Voltage-gated potassium channel
Nonsyndromic deafness various
Paramyotonia congenita
(a periodic paralysis)
Voltage-gated sodium channel
Retinitis pigmentosa
(some forms)
Ligand-gated non-specific ion channels
Short QT syndrome various potassium channels suspected
Timothy syndrome Voltage-dependent calcium channel
Tinnitus Voltage-gated potassium channel of the KCNQ family
Seizure Voltage-dependent potassium channel[2][3]

Source: Wikipedia

References[edit | edit source]

  1. Vargas-Alarcon G, Alvarez-Leon E, Fragoso JM, et al. (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 3310736Freely accessible. PMID 22348792. 
  2. Hunter JV, Moss AJ (January 2009). "Seizures and arrhythmias: Differing phenotypes of a common channelopathy?". Neurology. 72 (3): 208–9. doi:10.1212/01.wnl.0000339490.98283.c5. PMID 19153369. Retrieved 2009-04-30. 
  3. Mulley JC, Scheffer IE, Petrou S, Berkovic SF (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 2009-04-30. 


The information provided at this site is not intended to diagnose or treat any illness.

From MEpedia, a crowd-sourced encyclopedia of ME and CFS science and history