case_images: PMC9194094_01
case_images: EEG longitudinal bipolar montage. Sweep: 30 mm/s; sensitivity: 150 mV/mm; bandpass: 1-70 Hz. Awake EEG (A) showing slow background activity with normal posterior dominant rhythm. Ictal EEG recording (B) showing myoclonic jerks with diffuse discharge and bursts of slow waves. 1.5T axial (C) and sagittal (D) T1 MRI indicated a mild diffuse brain atrophy, bilateral ventriculomegaly (blue arrows), and thinning of the corpus callosum (green arrows). Facial features (E) including a pronounced double curve of the upper lip (Cupid's bow) and long palpebral fissures. Face2Gene analysis (F) showing low overlap with Kabuki syndrome.
case_images: fgene-13-888481-g001.jpg
case_images: PMC9194094_01_fgene-13-888481-g001.jpg
case_images: F1
case_images: An electroencephalogram (EEG) showed regional interictal spikes in the right central-frontal area (Figure 1A). Slow background activity with normal posterior dominant rhythm, bifrontal and generalized discharges (sometimes followed by electrodecrement), low index during awakeness, and low-average index in the sleep appeared on EEG at 4 years of age (Figure 1B).