Figure 1.

SCN1B variants are linked to epilepsy syndromes and cardiac conduction diseases. SCN1B encodes Na_v-β1 (left) and its secreted splice variant Na_v-β1B (right). Sites for β1-α interaction, ankyrin binding, phosphorylation, and proteolytic cleavage are indicated. Ig: immunoglobulin. Human disease variants in β1 or β1B are indicated in yellow and are described in Table 1. Adapted from O'Malley and Isom (2015).