Table 2.
Major inherited diseases of sodium channels
Disease | Gene | Channel |
---|---|---|
Generalized epilepsy with febrile seizures plus | SCN1A | Nav1.1 |
Dravet syndrome (severe myoclonic epilepsy in infancy) | SCN1A | NaV1.1 |
Benign neonatal convulsions | SCN1A | NaV1.1 |
Familial hemiplegic migraine type III | SCN1A | NaV1.1 |
Benign familial neonatal–infantile seizures | SCN2A | NaV1.2 |
Hypokalaemic periodic paralysis type II | SCN4A | Nav1.4 |
K+-sensitive normokalaemic periodic paralysis | SCN4A | Nav1.4 |
Hyperkalaemic periodic paralysis | SCN4A | Nav1.4 |
Paramyotonia congenita | SCN4A | NaV1.4 |
Long QT syndrome type III | SCN5A | Nav1.5 |
Brugada syndrome | SCN5A | NaV1.5 |
Erythromelalgia | SCN9A | NaV1.7 |
Paroxysmal extreme pain disorder | SCN9A | NaV1.7 |
Congenital indifference to pain | SCN9A | NaV1.7 |