Genetic voltage gated channelopathies
| Ion channel | Disorder | Inheritance | Gene | Chromosome |
|---|---|---|---|---|
| Skeletal muscle disorders: | ||||
| Skeletal muscle sodium channel | HyperPP | Dominant | SCN4A | 17q23-2 9 10 11 12 13 |
| PMC | Dominant | |||
| PAM | Dominant | |||
| ?NormoPP | Dominant | |||
| Skeletal muscle DHP sensitive calcium channel | HypoPP | Dominant | CACLN1A3 | 1q31-32 14 15 27 |
| MH | Dominant | |||
| Skeletal muscle ryanodine calcium channel | MH | Dominant | RYR1 | 19q13.123 24 |
| Central core disease | Dominant | |||
| Skeletal muscle chloride channel | Myotonia congenita | |||
| Thomsen’s disease | Dominant | CLCN1 | 7q35 20 21 | |
| Becker’s myotonia | Recessive | |||
| CNS disorders: | ||||
| Brain and nerve potassium channel | Episodic ataxia type I with myokymia | Dominant | KCNA1 | 12p45 |
| Brain (P/Q-type) calcium channel | Episodic ataxia type II | Dominant | CACNL1A4 | 19p1328 |
| FHM | ||||
| SCA6 | ||||
Standard gene nomenclature is used for abbreviations. HyperPP=Hyperkalaemic periodic paralysis; HypoPP=hypokalaemic periodic paralysis;
NormoPP=normokalaemic periodic paralysis; PMC=paramyotonia congenita; PAM=potassium aggravated myotonia; MH=malignant hyperthermia; FHM=familial hemiplegic migraine; SCA6=spinocerebellar ataxia type 6.