channelopathy

Introduction

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)

More general terms

• genetic disease

More specific terms

• channelopathy-associated insensitivity to pain; autosomal recessive congenital indifference to pain
• paroxysmal extreme pain disorder (familial rectal pain)