Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
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| Title: | Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3. |
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| Authors: | Sim JC; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Scerri T; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Fanjul-Fernández M; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Riseley JR; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Gillies G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., Pope K; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., van Roozendaal H; VUMC School of Medical Sciences, Amsterdam, The Netherlands., Heng JI; The Harry Perkins Institute of Medical Research, The Center for Medical Research, University of Western Australia, Perth, Australia., Mandelstam SA; The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.; University of Melbourne, Department of Radiology, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., McGillivray G; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia., MacGregor D; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia., Kannan L; Department of Neurology, Royal Children's Hospital, Melbourne, Australia., Maixner W; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; Department of Neurosurgery, Royal Children's Hospital, Melbourne, Australia., Harvey AS; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Amor DJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Delatycki MB; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia.; Clinical Genetics, Austin Health, Melbourne, Australia., Crino PB; Shriners Hospital Pediatric Research Center, Temple University, Philadelphia, PA., Bahlo M; Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia.; Department of Medical Biology, The University of Melbourne, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia., Leventer RJ; Department of Neurology, Royal Children's Hospital, Melbourne, Australia.; Neuroscience Research Group, Murdoch Childrens Research Institute, Melbourne, Australia.; University of Melbourne, Department of Pediatrics, Melbourne, Australia. |
| Source: | Annals of neurology [Ann Neurol] 2016 Jan; Vol. 79 (1), pp. 132-7. Date of Electronic Publication: 2015 Dec 12. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1531-8249 |
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| DOI: | 10.1002/ana.24502 |
