Figure 1.

Map of KCNA1 mutations associated with human disease. Human mutations in KCNA1 were mapped across the protein and color-coded to indicate their clinically documented disease association. Circles with two colors represent mutations with multiple phenotypes. Multiple circles at a given amino acid position represent multiple diseases caused by different amino acid changes at the same position (e.g., N255D/K). Abbreviations: PMC, paradoxical myotonic congenita; PKD, paroxysmal kinesigenic dyskinesia.