遗传PURA病原体变异与轻度神经发育障碍相关

Michael S Hildebrand¹, Ruth O Braden¹, Mariana L Lauretta¹+10

• ¹From the Epilepsy Research Centre (M.S.H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; Neuroscience Group (M.S.H., R.J.L., I.E.S.); Speech and Language (R.O.B., M.L., A.T.M.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville; Department of Audiology and Speech Pathology (R.O.B., M.L., A.T.M.), The University of Melbourne, Carlton; Population Health and Immunity Division (A.K., M.B.), The Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology (A.K., M.B.), The University of Melbourne; Department of Paediatrics (R.J.L., I.E.S., D.J.A.), The University of Melbourne; Department of Neurology (M.S.H., R.J.L., I.E.S., D.J.A.), Royal Children's Hospital, Parkville; PURA Foundation Australia Ltd (M.A.), Plenty, Victoria; Hunter Genetics (H.G.), John Hunter Hospital, New Lambton Heights, New South Wales; The Florey Institute (I.E.S.); Neurodisability and Rehabilitation Group (D.J.A.), Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia; and Institute of Structural Biology (R.J., D.N.), Helmholtz Zentrum Muenchen-German Research Centre for Environmental Health, Neuherberg, Germany.