Table 7.

Regions of SCN8A with Functionally validated epilepsy variants with references.

Gene	Amino acids affected by missense variants	Deletion regions	Protein-truncating variant regions	References
SCN8A	R850, N984, P1719, N1716, G1451, V929, T767, N1768, R223, R1872, G1475, M1760	-	Pro1719ArgfsX6	(100, 138, 140, 141, 144, 148, 153, 154)