Na+ channel gene
|
Human disease
|
Mouse model
|
Common mutations
|
SCN4A
| Hyperkalaemic periodic paralysis | | T698M; T704M; M1595V; M1592V; V783I; M1360V |
SCN4A
| Myotonia fluctuans | | G1306A |
SCN4A
| Myotonia permanens | | G1306E |
SCN4A
| Myotonia acetazolamide responsive | | I1160V |
SCN4A
| Paramyotonia congenita | | I693T; V1293I; G1306V; T1313M; L1433R; R1448C; R1448H, R1448P; R1448S; V1458F; F1473S; V1589M |
SCN5A
| Long QT syndrome type 3 | | Deletion KPQ 1505-1507; N1325S; R1644H; R1623Q |
Scn8a
| | Motor end plate disease | Transgene induced intragenic deletion |
Scn8a
| | Jolting | A1071T |