AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Por: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM and Houlden H

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Publicada: 12 jul 2019 Ahead of Print: 12 jul 2019

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Filiaciones:
Salpietro V:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

 Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy

 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy

Dixon CL:
 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Guo H:
 Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA

 Center for Medical Genetics Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China

Bello OD:
 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Vandrovcova J:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Efthymiou S:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Maroofian R:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Heimer G:
 Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel

Burglen L:
 Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France

Valence S:
 Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France

Torti E:
 GeneDx, Gaithersburg, MD, 20877, USA

Hacke M:
 Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany

Rankin J:
 Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK

Tariq H:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Colin E:
 Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France

 MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France

Procaccio V:
 Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France

 MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France

Striano P:
 Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy

 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy

Mankad K:
 Great Ormond Street Hospital for Children, London, WC1N 3JH, UK

Lieb A:
 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Chen S:
 Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA

Pisani L:
 Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA

Bettencourt C:
 Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK

Männikkö R:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Manole A:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

Brusco A:
 Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy

Grosso E:
 Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy

Ferrero GB:
 Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy

Armstrong-Moron J:
 Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain

Gueden S:
 Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France

Bar-Yosef O:
 Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel

Tzadok M:
 Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel

Monaghan KG:
 GeneDx, Gaithersburg, MD, 20877, USA

Santiago-Sim T:
 GeneDx, Gaithersburg, MD, 20877, USA

Person RE:
 GeneDx, Gaithersburg, MD, 20877, USA

Cho MT:
 GeneDx, Gaithersburg, MD, 20877, USA

Willaert R:
 GeneDx, Gaithersburg, MD, 20877, USA

Yoo Y:
 Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea

Chae JH:
 Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea

Quan Y:
 Center for Medical Genetics Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China

Wu H:
 Center for Medical Genetics Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China

Wang T:
 Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA

 Center for Medical Genetics Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China

Bernier RA:
 Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA

Xia K:
 Center for Medical Genetics Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China

Blesson A:
 Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA

Jain M:
 Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA

Motazacker MM:
 Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands

Jaeger B:
 Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands

Schneider AL:
 Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia

Boysen K:
 Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia

Muir AM:
 Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA

Myers CT:
 Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA

Gavrilova RH:
 Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA

Gunderson L:
 Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA

Schultz-Rogers L:
 Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA

Klee EW:
 Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA

Dyment D:
 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada

Osmond M:
 Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada

 Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada

 Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada

Parellada M:
 Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain

Llorente C:
 Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain

Gonzalez-Peñas J:
 Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain

Carracedo A:
 Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain

 Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain

Van Haeringen A:
 Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands

Ruivenkamp C:
 Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands

Nava C:
 Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France

Heron D:
 Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France

Nardello R:
 Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities "G. D'Alessandro", University of Palermo, 90133, Palermo, Italy

Iacomino M:
 Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy

Minetti C:
 Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", 16147, Genoa, Italy

 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy

Skabar A:
 Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy

Fabretto A:
 Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, 34134, Trieste, Italy

Raspall-Chaure M:
 Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain

Chez M:
 Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA

Tsai A:
 Department of Genetics and Inherited Metabolic diseases, Children's Hospital Colorado, Aurora, CO, 80045, USA

Fassi E:
 Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA

Shinawi M:
 Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA

Constantino JN:
 William Greenleaf Eliot Division of Child Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA

De Zorzi R:
 Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy

Fortuna S:
 Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy

Kok F:
 Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil

 Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil

Keren B:
 Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France

Bonneau D:
 Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France

 MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France

Choi M:
 Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea

Benzeev B:
 Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel

Zara F:
 Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto "Giannina Gaslini", 16147, Genova, Italy

Mefford HC:
 Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA

Scheffer IE:
 Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia

Clayton-Smith J:
 Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK

 Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK

Macaya A:
 Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain

Rothman JE:
 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK

 Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA

Eichler EE:
 Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA

 Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA

Kullmann DM:
 Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

Houlden H:
 Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.