Channelopathy

Channelopathy
Classification and external resources
MeSH	D053447

Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them.^[1] These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired^[2] (often resulting from autoimmune attack on an ion channel).

There are a large number of distinct dysfunctions known to be caused by ion channel mutations. The genes for the construction of ion channels are highly conserved amongst mammals and one condition, hyperkalemic periodic paralysis, was first identified in the descendants of Impressive, a registered Quarter Horse (see AQHA website).

The channelopathies of human skeletal muscle include hyper-, hypo- and normokalemic (high, low and normal potassium blood concentrations) periodic paralysis, myotonia congenita and paramyotonia congenita.

Types

Condition	Channel type
Alternating hemiplegia of childhood	Na⁺/K⁺-ATPase
Bartter syndrome	various by type
Brugada syndrome	various, by type
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
Hyperkalemic periodic paralysis	Voltage-gated sodium channel
Hypokalemic periodic paralysis	Voltage-gated sodium channel or voltage-dependent calcium channel (calciumopathy)
Long QT syndrome main type Romano-Ward syndrome	various, by type
Malignant hyperthermia	Ligand-gated calcium channel
Mucolipidosis type IV	Non-selective cation channel
Myasthenia Gravis	Ligand-gated sodium channel
Myotonia congenita	Voltage-dependent chloride 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
Seizure	Voltage-dependent potassium channel^[3]^[4]

References

^ Robert S. Kass (2005). "The channelopathies: novel insights into molecular and genetic mechanisms of human disease". Journal of Clinical Investigation 115 (8): 1986–9. doi:10.1172/JCI26011. PMC 1180558. PMID 16075038. http://www.jci.org/cgi/content/full/115/8/1986.
^ Sid Gilman (2007). Neurobiology of disease. Academic Press. pp. 319–. ISBN 9780120885923. http://books.google.com/books?id=z7vZJQW4D_MC&pg=PA319. Retrieved 22 November 2010.
^ 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. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=19153369. Retrieved 2009-04-30.
^ 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. http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=1350-7540&volume=16&issue=2&spage=171. Retrieved 2009-04-30.

External links

VIDEO Channel Surfing in Pediatrics by Carl E. Stafstrom, M.D., at the UW-Madison Health Sciences Learning Center.

Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)

Neuromuscular-
junction disease

autoimmune (Myasthenia gravis, Lambert–Eaton myasthenic syndrome)

Myopathy/
congenital myopathy

Muscular dystrophy
(DAPC)

AD	Limb-girdle muscular dystrophy 1 · Oculopharyngeal · Facioscapulohumeral · Myotonic · Distal (most)

AR	Limb-girdle muscular dystrophy 2 · Congenital (Fukuyama, Ullrich, Walker–Warburg)

XR	dystrophin (Becker's, Duchenne) · Emery–Dreifuss

Other structural

collagen disease (Bethlem myopathy) · PTP disease (X-linked MTM) · adaptor protein disease (BIN1-linked centronuclear myopathy) · cytoskeleton disease (Nemaline myopathy, Zaspopathy)

Channelopathy

Myotonia	Myotonia congenita · Thomsen disease · Neuromyotonia/Isaacs syndrome · Paramyotonia congenita

Periodic paralysis	Hypokalemic (Thyrotoxic) · Hyperkalemic

Other	Central core disease

Mitochondrial myopathy

MELAS · MERRF · KSS · PEO

Other

Inflammatory myopathy

M: MUS, DF+DRCT

anat (h/n, u, t/d, a/p, l)/phys/devp/hist

noco(m, s, c)/cong(d)/tumr, sysi/epon, injr

proc, drug (M1A/3)

Genetic disorder, membrane: Channelopathy

Calcium channel

Voltage-gated	CACNA1A (Familial hemiplegic migraine 1, Episodic ataxia 2, Spinocerebellar ataxia type-6) · CACNA1C (Timothy syndrome, Brugada syndrome 3, Long QT syndrome 8) · CACNA1F (Ocular albinism 2, CSNB2A) · CACNA1S (Hypokalemic periodic paralysis 1, Thyrotoxic periodic paralysis 1) · CACNB2 (Brugada syndrome 4)

Ligand gated	RYR1 (Malignant hyperthermia, Central core disease) · RYR2 (CPVT1, ARVD2)

Sodium channel

Voltage-gated	SCN1A (Familial hemiplegic migraine 3, GEFS+ 2, Febrile seizure 3A) · SCN1B (Brugada syndrome 6, GEFS+ 1) · SCN4A (Hypokalemic periodic paralysis 2, Hyperkalemic periodic paralysis, Paramyotonia congenita, Potassium-aggravated myotonia) · SCN4B (Long QT syndrome 10) · SCN5A (Brugada syndrome 1, Long QT syndrome 3) · SCN9A (Erythromelalgia, Febrile seizure 3B, Paroxysmal extreme pain disorder, Congenital insensitivity to pain)

Constitutively active	SCNN1B/SCNN1G (Liddle's syndrome) · SCNN1A/SCNN1B/SCNN1G ( Pseudohypoaldosteronism 1AR)

Potassium channel

Voltage-gated	KCNA1 (Episodic ataxia 1) · KCNA5 (Familial atrial fibrillation 7) · KCNC3 (Spinocerebellar ataxia type-13) · KCNE1 (Jervell and Lange-Nielsen syndrome, Long QT syndrome 5) · KCNE2 (Long QT syndrome 6) · KCNE3 (Brugada syndrome 5) · KCNH2 (Short QT syndrome) · KCNQ1 (Jervell and Lange-Nielsen syndrome, Romano-Ward syndrome, Short QT syndrome, Long QT syndrome 1, Familial atrial fibrillation 3) · KCNQ2 (BFNS1}

Inward-rectifier	KCNJ1 (Bartter syndrome 2) · KCNJ2 (Andersen-Tawil syndrome, Long QT syndrome 7, Short QT syndrome) · KCNJ11 (TNDM3) · KCNJ18 (Thyrotoxic periodic paralysis 2)

Chloride channel

CFTR (Cystic fibrosis, Congenital absence of the vas deferens) · CLCN1 (Thomsen disease, Myotonia congenita) · CLCN5 (Dent's disease) · CLCN7 (Osteopetrosis A2, B4 · BEST1 (Vitelliform macular dystrophy) · CLCNKB (Bartter syndrome 3)

TRP channel

TRPC6 (FSGS2) · TRPML1 (Mucolipidosis type IV)

Connexin

GJA1 (Oculodentodigital dysplasia, Hallermann–Streiff syndrome, Hypoplastic left heart syndrome) · GJB1 (Charcot–Marie–Tooth disease X1) · GJB2 (Keratitis–ichthyosis–deafness syndrome, Ichthyosis hystrix, Bart–Pumphrey syndrome, Vohwinkel syndrome) · GJB3/GJB4 (Erythrokeratodermia variabilis, Progressive symmetric erythrokeratodermia) · GJB6 (Clouston's hidrotic ectodermal dysplasia)

Porin

AQP2 (Nephrogenic diabetes insipidus 2)

see also ion channels
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

Categories:

Channelopathy
Genetic disorder stubs

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Look at other dictionaries:

channelopathy — noun Any inherited disease caused by a mutation in the genes that code for ion channel subunits or the proteins that regulate them … Wiktionary
channelopathy — chan·nel·op·a·thy (chan″əl opґə the) a disorder of channels … Medical dictionary
ion channelopathy — any of numerous hereditary conditions caused by mutations in genes encoding ion channels, resulting in abnormal function of the channels. Channelopathies are named for the ion channel affected, e.g., sodium channelopathy. Called also ion channel… … Medical dictionary
ion channelopathy — noun Any of several inherited diseases in which alterations in the control of ion conductance through the central pore of ion channels impair cell functions … Wiktionary
Myotonia congenita — Classification and external resources ICD 10 G71.1 ICD 9 359.2 … Wikipedia
Congenital insensitivity to pain — Classification and external resources OMIM 243000 147430 DiseasesDB 31214 … Wikipedia
Erythromelalgia — Classification and external resources Erythromelalgia in a 77 year old woman with longstanding polycythemia vera. ICD 10 I … Wikipedia
Ion channel — Not to be confused with: Ion Television or Ion implantation. Schematic diagram of an ion channel. 1 channel domains (typically four per channel), 2 outer vestibule, 3 selectivity filter, 4 diameter of selectivity filter, 5 phosphorylation site, 6 … Wikipedia
Myasthenia gravis — Classification and external resources Detailed view of a neuromuscular junction: 1. Axon 2. Sarcolemma 3. Synaptic vesicle 4. Nicotinic acetylcholine receptor 5. Mitochondrion … Wikipedia
Neuromyotonia — Classification and external resources ICD 10 G71.1 ICD 9 333.90 … Wikipedia

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Channelopathy

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