Methods: We conducted a retrospective review of clinical EEGs in patients with PTHS. Because there is significant phenotypic overlap between PTHS and other neurodevelopmental disorders such as Angelman syndrome and Rett syndrome, which have characteristic EEG patterns, exploration of a potential EEG signature in patients with PTHS was warranted. Up to one-half of patients with PTHS will have epilepsy however, little is known about the characteristic electroencephalogram (EEG) findings in this population. Aim: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mono-allelic loss of function variants of transcription factor 4 ( TCF4), which plays a key role in early brain developmental and neuronal differentiation.
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