Figure 4. Location of mutations in CHD2.

The location of all reported de novo CHD2 mutations associated with epilepsy is shown. The red arrows denote the 3 novel mutations reported here, blue arrows our 6 cases in Carvill et al.,¹ orange arrows the 3 Suls et al.³ cases, and green arrows the single cases of Epi4k² and Rauch et al.¹² Suls 1 is an approximated position based on where the splice site mutation is predicted to truncate the protein.³ The arrow (case 9) represents the partial gene deletion. F = frameshift; M = missense mutation; N = nonsense mutation; S = splice site mutation.