PURA and PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation: Purine-rich element-binding protein A (PURA) syndrome (MIM #600473) is a rare genetic disorder characterized by moderate-to-severe intellectual disability with hypotonia, hypothermia, hypersomnolence, feeding difficulties, excessive hiccups, recurrent central and obstructive apnea, epileptic seizures, abnormal nonepileptic movements, and abnormal vision1.