Table 2

Na+ channel genes associated with neurological and cardiac disorders in human and mouse

Na+ channel gene Human disease Mouse model Common mutations
SCN4A Hyperkalaemic periodic paralysisT698M; T704M; M1595V; M1592V; V783I; M1360V
SCN4A Myotonia fluctuansG1306A
SCN4A Myotonia permanensG1306E
SCN4A Myotonia acetazolamide responsiveI1160V
SCN4A Paramyotonia congenitaI693T; V1293I; G1306V; T1313M; L1433R; R1448C; R1448H, R1448P; R1448S; V1458F; F1473S; V1589M
SCN5A Long QT syndrome type 3Deletion KPQ 1505-1507; N1325S; R1644H; R1623Q
Scn8a Motor end plate diseaseTransgene induced intragenic deletion
Scn8a JoltingA1071T