Ion channel | Disorder | Inheritance | Gene | Chromosome | |||
Voltage gated | |||||||
Potassium | Familial generalised myokymia | Dominant | Kv1.1 | 12p | |||
Sodium | HyperPP | Dominant | SCNA4 | 17q | |||
Paramyotonia congenita | Dominant | ||||||
PAM | Dominant | ||||||
Calcium | HypoPP | Dominant | CACLN1A3 | 1q | |||
Malignant hyperthermia | Dominant | ||||||
Calcium | Central core disease | Dominant | RYR1 | 19q | |||
Malignant hyperthermia | Dominant | ||||||
Chloride | Myotonia congenita | CLCN1 | 7q | ||||
Thomsen's disease | Dominant | ||||||
Becker's myotonia | Recessive | ||||||
Potassium (cochlea) | Jervell and Lange–Nielsen syndrome | Recessive | KCNQ1 | 11p | |||
(Long QT and deafness) | Recessive | KCNE1 | 21q | ||||
Autosomal dominant deafness type 2 | Dominant | KCNQ4 | 1p | ||||
Calcium (retina) | Stationary night blindness | X linked | CACNA1F | Xp | |||
Ligand gated | |||||||
Nicotinic acetylcholine receptor | Congenital myasthenia | Dominant and recessive | CHRNA | 2q | |||
CHRNG | |||||||
CHRND | |||||||
CHRNB | 17p | ||||||
CHRNE |
HyperPP, hyperkalaemic periodic paralysis; PAM, potassium aggravated myotonia; HypoPP, hypokalaemic periodic paralysis.