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Bone et al. J Transl Genet Genom 2022;6:169-78 https://dx.doi.org/10.20517/jtgg.2021.56 Page 175

Figure 1. EEG demonstrating focal slowing, focal spikes, and a focal onset seizure in a patient with an intronic splice site missense
variant (patient #18 in [Table 1]). EEG was performed at age 3 years. A: Right temporal delta slowing with right temporal spikes in
common average reference montage; B: Right temporal onset seizure in longitudinal bipolar montage, shown in 15 mm/s time scale.
EEG: electroencephalogram.

Figure 2. Age of Motor Milestone Attainment in PTHS. In this line graph, we demonstrate the mean age at which individuals with PTHS
attain motor milestones of rolling, sitting, standing, cruising, and walking as grouped by those with abnormal EEG and those with normal
EEG. The mean age of attainment in typically developing individuals is depicted for reference. PTHS: Pitt-Hopkins syndrome; EEG:
electroencephalogram.

All individuals with clinical epilepsy had focal onset seizures and abnormal EEGs. The majority had