Figure 1. De novo SCN8A mutations in patients with epileptic encephalopathy reported in this study (red dots) and in the literature (green triangles)^{8,9,12,13,16,23}.

The letters associated with each dot correspond to the patient identification in the tables. Mutations are observed in the cytoplasmic loops, extracellular loops, and transmembrane helices. There are 3 amino acid residues that are found to be recurrently mutated: 5 occurrences at Arg1872, 3 of Arg1617Gln, and 2 of Ala1650Thr have been reported.