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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.

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Title: Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Authors: Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China., Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China., Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France., Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France., Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France., Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy., Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico., Brown C; Illumina Inc, San Diego, CA 92122, USA., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico., Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA., Thorpe E; Illumina Inc, San Diego, CA 92122, USA., Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada., Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Micalizzi A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark., Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Gerard B; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Shi YS; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China., Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.
Source: Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.
Publication Type: Journal Article; 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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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Rinaldi+B%22">Rinaldi B</searchLink>; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark.<br /><searchLink fieldCode="AU" term="%22Zachariassen+LG%22">Zachariassen LG</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Sun+JH%22">Sun JH</searchLink>; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China.<br /><searchLink fieldCode="AU" term="%22Ge+YH%22">Ge YH</searchLink>; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.<br /><searchLink fieldCode="AU" term="%22Zhao+D%22">Zhao D</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Bonde+K%22">Bonde K</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Madsen+LH%22">Madsen LH</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Awad+IAA%22">Awad IAA</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Bagiran+D%22">Bagiran D</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Sbeih+A%22">Sbeih A</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Shah+SM%22">Shah SM</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22El-Sayed+S%22">El-Sayed S</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Lyngby+SM%22">Lyngby SM</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Pedersen+MG%22">Pedersen MG</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Stenum-Berg+C%22">Stenum-Berg C</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Walker+LC%22">Walker LC</searchLink>; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Delahaye-Duriez+A%22">Delahaye-Duriez A</searchLink>; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France.<br /><searchLink fieldCode="AU" term="%22Emrick+LT%22">Emrick LT</searchLink>; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Sully+K%22">Sully K</searchLink>; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Murali+CN%22">Murali CN</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Plaud+Gonzalez+JA%22">Plaud Gonzalez JA</searchLink>; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Parnes+M%22">Parnes M</searchLink>; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+J%22">Friedman J</searchLink>; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Lefranc+J%22">Lefranc J</searchLink>; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France.<br /><searchLink fieldCode="AU" term="%22Redon+S%22">Redon S</searchLink>; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France.<br /><searchLink fieldCode="AU" term="%22Heron+D%22">Heron D</searchLink>; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Fradin+M%22">Fradin M</searchLink>; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France.<br /><searchLink fieldCode="AU" term="%22Rivier+C%22">Rivier C</searchLink>; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France.<br /><searchLink fieldCode="AU" term="%22Milani+D%22">Milani D</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Napoli+C%22">Di Napoli C</searchLink>; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Grilli+F%22">Grilli F</searchLink>; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Marchisio+P%22">Marchisio P</searchLink>; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy.<br /><searchLink fieldCode="AU" term="%22Koudijs+S%22">Koudijs S</searchLink>; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Veenma+D%22">Veenma D</searchLink>; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Argilli+E%22">Argilli E</searchLink>; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.<br /><searchLink fieldCode="AU" term="%22Ayala+Valenzuela+FE%22">Ayala Valenzuela FE</searchLink>; Hospital Angeles Tijuana, Tijuana 22010, Mexico.<br /><searchLink fieldCode="AU" term="%22Brown+C%22">Brown C</searchLink>; Illumina Inc, San Diego, CA 92122, USA.<br /><searchLink fieldCode="AU" term="%22Masser-Frye+D%22">Masser-Frye D</searchLink>; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Jones+M%22">Jones M</searchLink>; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA.<br /><searchLink fieldCode="AU" term="%22Patron+Romero+L%22">Patron Romero L</searchLink>; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico.<br /><searchLink fieldCode="AU" term="%22Li+WL%22">Li WL</searchLink>; Breakthrough Genomics Inc, Irvine, CA 92618, USA.<br /><searchLink fieldCode="AU" term="%22Thorpe+E%22">Thorpe E</searchLink>; Illumina Inc, San Diego, CA 92122, USA.<br /><searchLink fieldCode="AU" term="%22Hecher+L%22">Hecher L</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.<br /><searchLink fieldCode="AU" term="%22Johannsen+J%22">Johannsen J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.<br /><searchLink fieldCode="AU" term="%22Denecke+J%22">Denecke J</searchLink>; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany.<br /><searchLink fieldCode="AU" term="%22McNiven+V%22">McNiven V</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada.<br /><searchLink fieldCode="AU" term="%22Szuto+A%22">Szuto A</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada.<br /><searchLink fieldCode="AU" term="%22Wakeling+E%22">Wakeling E</searchLink>; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.<br /><searchLink fieldCode="AU" term="%22Cruz+V%22">Cruz V</searchLink>; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.<br /><searchLink fieldCode="AU" term="%22Sency+V%22">Sency V</searchLink>; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; 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Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel.<br /><searchLink fieldCode="AU" term="%22Kaur+S%22">Kaur S</searchLink>; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia.<br /><searchLink fieldCode="AU" term="%22Piton+A%22">Piton A</searchLink>; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France.<br /><searchLink fieldCode="AU" term="%22Zweier+C%22">Zweier C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland.<br /><searchLink fieldCode="AU" term="%22Kraus+C%22">Kraus C</searchLink>; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.<br /><searchLink fieldCode="AU" term="%22Micalizzi+A%22">Micalizzi A</searchLink>; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22Trivisano+M%22">Trivisano M</searchLink>; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22Specchio+N%22">Specchio N</searchLink>; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark.<br /><searchLink fieldCode="AU" term="%22Tümer+Z%22">Tümer Z</searchLink>; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark.<br /><searchLink fieldCode="AU" term="%22Musgaard+M%22">Musgaard M</searchLink>; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada.<br /><searchLink fieldCode="AU" term="%22Gerard+B%22">Gerard B</searchLink>; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France.<br /><searchLink fieldCode="AU" term="%22Lemke+JR%22">Lemke JR</searchLink>; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany.<br /><searchLink fieldCode="AU" term="%22Shi+YS%22">Shi YS</searchLink>; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China.<br /><searchLink fieldCode="AU" term="%22Kristensen+AS%22">Kristensen AS</searchLink>; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.
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  Data: <searchLink fieldCode="JN" term="%220372537%22">Brain : a journal of neurology</searchLink> [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.
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      – TitleFull: Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
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