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. 2021 Mar 24;12:600050. doi: 10.3389/fneur.2021.600050

Table 6.

Regions of SCN3A with functionally validated epilepsy variants with references.

Gene Amino acids affected by missense variants Deletion regions Protein-truncating variant regions References
SCN3A I85, N302, R274, A343, K354, R357, I766, I875, D1111, V1323, P1333, R1642, N1657, V1769, E1160 - - (12, 124126)