Table 3.

Regions of SCN1A with functionally validated epilepsy variants with references.

Gene	Amino acids affected by missense variants	Deletion regions	Protein-truncating variant regions	References
SCN1A	M145,G177,D188,I227,L263,N301,Y325, R393,Y426, E788,T808,R859,R865,T875,F902, M909,H939,R946,C959,G979,V983,N985,L986,N1011,T1174,W1204,K1270,V1353,F1415, Q1489,R1575, E1587, R1596,V1611,P1632,R1648,L1649,I1656,R1657,F1661,G1674,A1685,T1709,G1749,F1765,F1808,F1831,M1841, M1852,D1866,T1909, R1916, Q1923, R1927, T1934	V806-L863,F1289,T160-Y202,V1335-V1428,V806-L863	E78, Y159,R222,W384,R712,R1234, R1245,R1396, R1892,R1407, R1645	(44, 48, 52, 53, 73–76) and SCN1A database (https://scn1a.caae.org.cn/functional_studies_eletrophy.php)

SCN1A database provides detailed information on functional studies of SCN1A mutations. Above, we have included references not yet updated on the website.