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

Table 4.

Regions of SCN1B with functionally validated epilepsy variants with references.

Gene Amino acids affected by missense variants Deletion regions Protein-truncating variant regions References
SCN1B D25, R85, R89, I106, Y119, R125, C121 I70-E74 - (79, 83, 85, 87, 9497)