PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation: The patients of our cohort all exhibited different PURA variants (Fig. 1A) and showed the general clinical features of the PURA syndrome, including severe intellectual disability (100%) and neonate-onset symptoms such as hypotonia (100%), respiratory problems (37%), feeding difficulties (37%), hypersomnolence (25%) and ophthalmological problems (87%) [3].