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Channelopathies

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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]

See also[]

References[]

  1. ↑ Robert S. Kass (2005). The channelopathies: novel insights into molecular and genetic mechanisms of human disease. Journal of Clinical Investigation 115 (8): 1986–9.
  2. ↑ Sid Gilman (2007). Neurobiology of disease, 319–, Academic Press. URL accessed 22 November 2010.
  3. ↑ Hunter JV, Moss AJ (January 2009). Seizures and arrhythmias: Differing phenotypes of a common channelopathy?. Neurology 72 (3): 208–9.
  4. ↑ 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.

External links[]

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


v·d·e
Diseases of myoneural junction and muscle / neuromuscular disease (G70–G73, 358–359)
Neuromuscular-
junction disease
Myopathy/
congenital myopathy
[. v]·[. d]·[. e]

Muscular dystrophy
(DAPC)
[. v]·[. d]·[. e]

AD
AR
XR

Other structural
Channelopathy
[. v]·[. d]·[. e]

Myotonia
Periodic paralysis
Other
  • Central core disease

Mitochondrial myopathy
Other
  • Inflammatory myopathy

{| class="navbox collapsible nowraplinks" style="margin:auto; "
[. v]·[. d]·[. e]

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)

|}

v·d·e
Genetic disorder, membrane: Channelopathy
Calcium channel

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)

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


Potassium channel

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}

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
Template:Protein defects by function navs


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