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channelopathy
disease due to malfunction of an ion channel, including but not limited to:
- alternating hemiplegia of childhood (ATP1A2)
- Bartter syndrome (SLC12A1, CLCNKA, CLCNKB, KCNJ1)
- Brugada syndrome (SCN5A)
- congenital hyperinsulinism (ABCC8)
- cystic fibrosis (CFTR)
- epilepsy (several)
- episodic ataxia (KCNA1, CACNA1A, SLC1A3)
- erythromelalgia (SCN9A)
- generalized epilepsy with febrile seizures plus (SCN5A)
- familial hemiplegic migraine (CACNL1A4, ATP1A2, SCN1A)
- familial periodic paralysis (SCN4A, CACNA1S)
- long QT syndrome type 3 (SCN5A)
- Romano-Ward syndrome (KCNQ1)
- malignant hyperthermia (RYR1)
- mucolipidosis type 4 (non-selective cation channel)
- myasthenia gravis (ligand-gated Na+ channels & Ca+2 channels, see nicotinic receptor)
- myotonia congenita (CLCN1)
- neuromyotonia (voltage-gated potassium channel)
- nonsyndromic deafness
- paramyotonia congenita (SCN4A)
- retinitis pigmentosa (several)
- short QT syndrome (KCNQ1)
- Timothy syndrome (CACNA1C)
Specific
channelopathy-associated insensitivity to pain; autosomal recessive congenital indifference to pain
paroxysmal extreme pain disorder (familial rectal pain)
General
genetic disease
References
- Wikipedia: Channelopathy
http://en.wikipedia.org/wiki/Channelopathy