Figure 1.

Distribution of identified variants along the SCN1A gene’s coding exons (splicing variants, deletions) and Nav1.1 protein (missense, stop, frameshift and in frame). The alpha subunit consists of four homologous domains (D1–D4), each formed of six transmembrane segments (S1–S6). Segment 4 represents the voltage sensor, and S5–S6 represents the pore region. Individual variants are displayed in different colors; truncating variants are marked in red, missense blue and in frame dup in green.