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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry, Andrew E; Fawcett, Katherine A; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A N; Shemer-Meiri, Lilach; Cushion, Thomas D; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I; Patel, Chirag V; Brueton, Louise A; Layet, Valérie; Giuliano, Fabienne; Kerr, Michael P; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L; Kofman, Laura H; Knight, Kristin M; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A; Shaulsky, Gil H; Mirzaa, Ghayda M; Muir, Alison M; Mefford, Heather C; Dobyns, William B; Mackenzie, Amanda B; Mullins, Jonathan G L; Lemke, Johannes R; Bahi-Buisson, Nadia; Traynelis, Stephen F; Iago, Heledd F; Pilz, Daniela T.
Afiliação
  • Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.
  • Fawcett KA; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • Zelnik N; 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.
  • Yuan H; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel.
  • Thompson BAN; Bruce and Ruth Rappaport Faculty of Medicine, Technion, Haifa, Israel.
  • Shemer-Meiri L; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Cushion TD; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Mugalaasi H; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • Sims D; Department of Pharmacy and Pharmacology, University of Bath, Claverton Down, Bath BA2 7AY, UK.
  • Stoodley N; Pediatric Neurology Unit, Carmel Medical Center, Haifa, Israel.
  • Chung SK; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK.
  • Rees MI; Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.
  • Patel CV; 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.
  • Brueton LA; Department of Neuroradiology, North Bristol NHS Trust, Frenchay Hospital, Bristol BS16 1LE, UK.
  • Layet V; Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.
  • Giuliano F; Neurology and Molecular Neuroscience Research, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea SA2 8PP, UK.
  • Kerr MP; Genetic Health Queensland, Royal Brisbane and Women's Hospital Campus, Herston, Brisbane, Queensland 4029, Australia.
  • Banne E; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK.
  • Meiner V; Service de Génétique Médicale, Groupe Hospitalier du Havre, Hôpital Jacques Monod, Le Havre, France.
  • Lerman-Sagie T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, Nice, France.
  • Helbig KL; MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK.
  • Kofman LH; Learning Disabilities Directorate, Abertawe Bro Morgannwg University NHS Trust, Treseder Way, Caerau, Cardiff CF5 5WF, UK.
  • Knight KM; Clinical Genetics Institute, Kaplan Medical Centre, Rehovot, Israel.
  • Chen W; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Hospital, Jerusalem, Israel.
  • Kannan V; Pediatric Neurology Unit, Wolfson Medical Centre, Holon, Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Hu C; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Kusumoto H; Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA.
  • Zhang J; Kaiser Permanente Mid-Atlantic States, McLean, VA 22102, USA.
  • Swanger SA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Shaulsky GH; Department of Neurology, Xiangya Hospital, Central South University, Changsha 410013, China.
  • Mirzaa GM; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Muir AM; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Mefford HC; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Dobyns WB; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Mackenzie AB; Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, 030001, China.
  • Mullins JGL; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Lemke JR; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA 30322, USA.
  • Bahi-Buisson N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Traynelis SF; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98195, USA.
  • Iago HF; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Pilz DT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Brain ; 141(3): 698-712, 2018 03 01.
Article em En | MEDLINE | ID: mdl-29365063
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Polimicrogiria / Mutação / Proteínas do Tecido Nervoso Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Polimicrogiria / Mutação / Proteínas do Tecido Nervoso Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Brain Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Reino Unido