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. 2020 Nov 25;21(1):40–47. doi: 10.1177/1535759720973978

Table 1.

Epilepsy-Causing VGSC Mutations Associated With an Increased INaP.

Isoform Epilepsy Syndromes Mutations References
SCN1A SMEI (DS), GEFS+, BFEI T875M, W1204, R1648H, R1648C, F1661S, P1632S, V1611F, F1808L, T1909I, R1575C, D1866Y 25-34
SCN2A BFNIS, BNS, EE, OS, BIS, DEE, GEFS+ A263V, V423L, Y1859C, R188W, R1882Q 35-41
SCN3A DEE, FE K434Q, K354Q, R357Q, D766N, E1111K, M1323V, I875T, P1333L, V1769A, L855P, I1468R, T1486I, R1621G, R1621Q, F1646C, M1765I, V1769A, V1280I 42-45
SCN8A DEE N1768D, R1872W, G1475R, A1491V, R1872L, N374K, M1391I, A1622D, R850Q, T767I, R1617Q 46-51

Abbreviations: BFEI, benign focal epilepsy of infancy; BFNIS, benign familial neonatal/infantile seizures; BIS, benign infantile seizures; BNS, benign neonatal seizures; DEE, developmental and epileptic encephalopathy; DS, Dravet syndrome; EE, epileptic encephalopathy; FE, focal epilepsy; GEFS+, generalized epilepsy with febrile seizures plus; OS, Ohtahara syndrome; SMEI, severe myoclonic epilepsy of infancy.