Fig. 2
From: Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies
a Pedigree of an isolated SHE patient carring the frameshift DEPDC5 mutation p.R389Pfs*2. Previously published in Baldassari et al., 2019 (Proband 18). b Targeted brain MRI showed a focal increase of cortical thickness with blurring of gray-white matter junction, over the right medium frontal gyrus (white arrows), suggestive of focal cortical dysplasia. c Interictal EEG showing repetitive low-amplitude sharp-waves over the right fronto-central region, enhanced by drowsiness