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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
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  Data: Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
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  Data: <searchLink fieldCode="AU" term="%22Alcantara+D%22">Alcantara D</searchLink>; Genome Damage and Stability Centre, University of Sussex, Sussex, UK.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gripp+K%22">Gripp K</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Baker+L%22">Baker L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Park+K%22">Park K</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Collins+S%22">Collins S</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Cheng+C%22">Cheng C</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+F%22">Stewart F</searchLink>; Belfast Health and Social Care Trust, Belfast, Northern Ireland, UK.<br /><searchLink fieldCode="AU" term="%22Mehta+SG%22">Mehta SG</searchLink>; East Anglian Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.<br /><searchLink fieldCode="AU" term="%22Saggar+A%22">Saggar A</searchLink>; South West Thames Regional Genetic Services, St. George's NHS Trust and St. George's Hospital Medical School, London, UK.<br /><searchLink fieldCode="AU" term="%22Sztriha+L%22">Sztriha L</searchLink>; Department of Pediatrics, University of Szeged, Szeged, Hungary.<br /><searchLink fieldCode="AU" term="%22Zombor+M%22">Zombor M</searchLink>; Department of Pediatrics, University of Szeged, Szeged, Hungary.<br /><searchLink fieldCode="AU" term="%22Caluseriu+O%22">Caluseriu O</searchLink>; Department of Medical Genetics, Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Mesterman+R%22">Mesterman R</searchLink>; Division of Pediatric Neurology, Developmental Pediatric Rehabilitation and Autism Spectrum Disorder, McMaster University, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Van+Allen+MI%22">Van Allen MI</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.; B.C. Children's Hospital Research Centre, Vancouver, BC Canada.<br /><searchLink fieldCode="AU" term="%22Jacquinet+A%22">Jacquinet A</searchLink>; Center for Human Genetics, Centre Hospitalier Universitaire and University of Liège, Liège, Belgium.<br /><searchLink fieldCode="AU" term="%22Ygberg+S%22">Ygberg S</searchLink>; Neuropediatric Unit and Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden.<br /><searchLink fieldCode="AU" term="%22Bernstein+JA%22">Bernstein JA</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Wenger+AM%22">Wenger AM</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Guturu+H%22">Guturu H</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Bejerano+G%22">Bejerano G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gomez-Ospina+N%22">Gomez-Ospina N</searchLink>; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Lehman+A%22">Lehman A</searchLink>; Department of Medical Genetics, University of British Columbia, Vancouver, Canada.<br /><searchLink fieldCode="AU" term="%22Alfei+E%22">Alfei E</searchLink>; Developmental Neurology Unit, Department of Pediatric Neurosciences, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pantaleoni+C%22">Pantaleoni C</searchLink>; Developmental Neurology Unit, Department of Pediatric Neurosciences, Carlo Besta Neurological Institute, IRCCS Foundation, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Conti+V%22">Conti V</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Guerrini+R%22">Guerrini R</searchLink>; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, Florence, Italy.; IRCCS Stella Maris, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Moog+U%22">Moog U</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Graham+JM+Jr%22">Graham JM Jr</searchLink>; Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Hevner+R%22">Hevner R</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Neurological Surgery, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Driscoll+M%22">O'Driscoll M</searchLink>; Genome Damage and Stability Centre, University of Sussex, Sussex, UK.<br /><searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; 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.
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