Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

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Title: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Authors: Alcantara D; Genome Damage and Stability Centre, University of Sussex, Sussex, UK., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Gripp K; Department of Pediatrics, Sidney Kimmel Medical School, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA., Baker L; Department of Pediatrics, Sidney Kimmel Medical School, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA., Park K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Cheng C; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Stewart F; Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK., Mehta SG; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK., Saggar A; South West Thames Regional Genetic Services, St. George's NHS Trust and St. George's Hospital Medical School, London, UK., Sztriha L; Department of Pediatrics, University of Szeged, Szeged, Hungary., Zombor M; Department of Pediatrics, University of Szeged, Szeged, Hungary., Caluseriu O; Department of Medical Genetics, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Mesterman R; Division of Pediatric Neurology, Developmental Pediatric Rehabilitation and Autism Spectrum Disorder, McMaster University, Hamilton, ON, Canada., Van Allen MI; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; B.C. Children's Hospital Research Centre, Vancouver, BC Canada., Jacquinet A; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium., Ygberg S; Neuropediatric Unit and Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Wenger AM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Guturu H; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Bejerano G; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Department of Computer Science, School of Engineering, Stanford University School of Medicine, Stanford, California, USA.; Department of Developmental Biology, School of Medicine, Stanford University School of Medicine, Stanford, California, USA., Gomez-Ospina N; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, Canada., Alfei E; Developmental Neurology Unit, Department of Pediatric Neurosciences, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy., Pantaleoni C; Developmental Neurology Unit, Department of Pediatric Neurosciences, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy., Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, Florence, Italy., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, Florence, Italy.; IRCCS Stella Maris, Pisa, Italy., Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Graham JM Jr; Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA., Hevner R; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Neurological Surgery, University of Washington, Seattle, Washington, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., O'Driscoll M; Genome Damage and Stability Centre, University of Sussex, Sussex, UK., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Source: Brain : a journal of neurology [Brain] 2017 Oct 01; Vol. 140 (10), pp. 2610-2622.
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1460-2156
DOI:10.1093/brain/awx203