De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
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| Title: | De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. |
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| Authors: | Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Fawcett KA; MRC Computational Genomics Analysis and Training Programme (CGAT), MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK., Zelnik N; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel.; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel., Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA., Thompson BAN; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.; Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK., Shemer-Meiri L; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel., Cushion TD; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK., Mugalaasi H; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK., Sims D; MRC Computational Genomics Analysis and Training Programme (CGAT), MRC Centre for Computational Biology, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DS, UK., Stoodley N; Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK., Chung SK; Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK., Rees MI; Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK., Patel CV; Genetic Health Queensland, Royal Brisbane and Women's Hospital Campus, Herston, Brisbane, Queensland 4029, Australia., Brueton LA; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Layet V; Service de Génétique Médicale, Groupe Hospitalier du Havre, Hôpital Jacques Monod, Le Havre, France., Giuliano F; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France., Kerr MP; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK.; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff CF5 5WF, UK., Banne E; Clinical Genetics Institute, Kaplan Medical Centre, Rehovot, Israel., Meiner V; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel., Lerman-Sagie T; Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Kofman LH; Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA., Knight KM; Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA., Chen W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410013, China., Kannan V; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA., Hu C; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA., Kusumoto H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA., Zhang J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.; Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, 030001, China., Swanger SA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA., Shaulsky GH; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA., Mirzaa GM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Dobyns WB; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA.; Department of Neurology, University of Washington, Seattle, WA 98195, USA., Mackenzie AB; Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK., Mullins JGL; Genome and Structural Bioinformatics Group, Institute of Life Science, Swansea University, Singleton Park, Swansea SA2 8PP, UK., Lemke JR; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Bahi-Buisson N; Imagine Institute, INSERM UMR-1163, Laboratory Genetics and Embryology of Congenital Malformations, Paris Descartes University, Paris, France., Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA., Iago HF; Genome and Structural Bioinformatics Group, Institute of Life Science, Swansea University, Singleton Park, Swansea SA2 8PP, UK., Pilz DT; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK. |
| Source: | Brain : a journal of neurology [Brain] 2018 Mar 01; Vol. 141 (3), pp. 698-712. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 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 |
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