Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel(German Center for Neurodegenerative Diseases), Bruno Reversade(Agency for Science, Technology and Research)Nature CommunicationsJanuary 30, 202010.1038/s41467-020-14360-7Cited by 54SaveCiteExport RISWatch citationsRelated PapersDe novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development|Nature Genetics|2017|133Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis|Nature Genetics|2022|27