PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation: In a previous study, homology models based on the dmPURA crystal structures (Graebsch et al., 2009; Weber et al., 2016) were used to predict in silico the effects of PURA syndrome-causing mutations on the structural integrity of the human PURA protein (Reijnders et al., 2018).