Among them, PURα was studied the most, for its implication in fragile × syndrome and PURA syndrome, a disorder characterized by intellectual disability and delayed development of speech and motor skills, such as walking (Johnson et al., 2013; Hunt et al., 2014; Lalani et al., 2014). Here, PURA is linked to PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.