Since the description of severe mental retardation in four patients with de novo mutations in the PURA gene, up to date, ~60 different mutations have been characterized in 75 individuals with PURA syndrome [1,2,3,8,9,10,11,12,13,14,15,16]. The gene discussed is PURA; the disease is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation.