Details of Disease
General Information of Disease (ID: DISCJ8DX)
| Disease Name | SCN4A-related channelopathy | ||||
|---|---|---|---|---|---|
| Synonyms | SCN4A-related channelopathy | ||||
| Definition |
Any muscular channelopathy in which the cause of the disease is a variation in the SCN4 gene. This is characteristic of a continuum in the clinical spectrum that includes sodium-channel myotonia, paramyotonia congenita, hypokalemic periodic paralysis type II and hyperkalemic periodic paralysis.
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