SCN4A
MIM.603967 17q23.1-q25.3
Pathology
germline mutations in
- familial hyperkalemic periodic paralysis HYPP (MIM.170500)
- paramyotonia congenita (MIM.168300)
- potassium-aggravated myotonia (MIM.608390)
- myotonia fluctuans (MIM.608390)
- potassium-sensitive normokalemic periodic paralysis (MIM.170500)
- myotonia permanens (MIM.608390)