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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Salpietro, V. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Dixon, C.L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Guo, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bello, O.D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Vandrovcova, J. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Efthymiou, S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Maroofian, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Heimer, G. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Burglen, L. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ;
Valence, S. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ;
Torti, E. (GeneDx) ;
Hacke, M. (Biochemistry Center. Heidelberg University) ;
Rankin, J. (Royal Devon and Exeter NHS Foundation Trust) ;
Tariq, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Colin, E. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Procaccio, V. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Striano, P. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Mankad, K. (Great Ormond Street Hospital for Children (Londres)) ;
Lieb, A. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Chen, S. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Pisani, L. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ;
Bettencourt, C. (UCL Institute of Neurology (Regne Unit)) ;
Männikkö, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manole, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Grosso, E. (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ;
Ferrero, G.B. (Department of Public Health and Pediatrics. University of Torino) ;
Armstrong-Moron, J. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gueden, S. (Unit of Neuropediatrics. University Hospital) ;
Bar-Yosef, O. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Tzadok, M. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Monaghan, K.G. (GeneDx) ;
Santiago-Sim, T. (GeneDx) ;
Person, R.E. (GeneDx) ;
Cho, M.T. (GeneDx) ;
Willaert, R. (GeneDx) ;
Yoo, Y. (Department of Biomedical Sciences. Seoul National University) ;
Chae, J.H. (Department of Pediatrics. Seoul National University) ;
Quan, Y. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wu, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Wang, T. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Bernier, R.A. (Department of Psychiatry. University of Washington) ;
Xia, K. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ;
Blesson, A. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Jain, M. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ;
Motazacker, M.M. (Department of Clinical Genetics. University of Amsterdam) ;
Jaeger, B. (Department of Pediatric Neurology. Amsterdam UMC) ;
Schneider, A.L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Boysen, K. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Muir, A.M. (Department of Pediatrics. University of Washington) ;
Myers, C.T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ;
Gavrilova, R.H. (Department of Clinical Genomics. Mayo Clinic) ;
Gunderson, L. (Department of Clinical Genomics. Mayo Clinic) ;
Schultz-Rogers, L. (Department of Clinical Genomics. Mayo Clinic) ;
Klee, E.W. (Department of Clinical Genomics. Mayo Clinic) ;
Dyment, D. (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ;
Osmond, M. (Genome Québec Innovation Center) ;
Parellada, M. (Hospital General Universitario Gregorio Marañón) ;
Llorente, C. (Hospital General Universitario Gregorio Marañón) ;
Gonzalez-Peñas, J. (Hospital General Universitario Gregorio Marañón) ;
Carracedo, A. (Fundación Pública Galega de Medicina Xenómica) ;
Van Haeringen, A. (Department of Clinical Genetics. Leiden University Medical Center) ;
Ruivenkamp, C. (Department of Clinical Genetics. Leiden University Medical Center) ;
Nava, Caroline. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Heron, D. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Nardello, R. (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ;
Iacomino, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Minetti, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Skabar, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Fabretto, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ;
Hanna, M.G. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bugiardini, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Hostettler, I. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Callaghan, B. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Khan, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
O'Connor, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Yau, W.Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Bourinaris, T. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Chelban, V. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Madej, M. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Diana, M.C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Vari, M.S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Pedemonte, M. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Bruno, C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ;
Balagura, G. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Scala, M. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Fiorillo, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Nobili, L. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ;
Malintan, N.T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Zanetti, M.N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Krishnakumar, S.S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Lignani, G. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Jepson, J.E.C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Broda, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Baldassari, S. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Rossi, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Fruscione, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Madia, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Traverso, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
De-Marco, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ;
Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ;
Kriouile, Y. (Children's Hospital of Rabat. University of Rabat) ;
El-Khorassani, M. (Children's Hospital of Rabat. University of Rabat) ;
Karashova, B. (Department of Paediatrics. Medical University of Sofia) ;
Avdjieva, D. (Department of Paediatrics. Medical University of Sofia) ;
Kathom, H. (Department of Paediatrics. Medical University of Sofia) ;
Tincheva, R. (Department of Paediatrics. Medical University of Sofia) ;
Van-Maldergem, L. (Centre of Human Genetics. University Hospital Liege) ;
Nachbauer, W. (Department of Neurology. Medical University Innsbruck) ;
Boesch, S. (Department of Neurology. Medical University Innsbruck) ;
Gagliano, A. (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ;
Amadori, E. (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ;
Goraya, J.S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ;
Sultan, T. (Department of Paediatric Neurology. Children's Hospital of Lahore) ;
Kirmani, S. (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ;
Ibrahim, S. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Jan, F. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ;
Mine, J. (Department of Pediatrics. Shimane University School of Medicine) ;
Banu, S. (Institute of Child Health and Shishu Shastho Foundation Hospital) ;
Veggiotti, P. (Vittore Buzzi Children's Hospital) ;
Zuccotti, G.V. (Vittore Buzzi Children's Hospital) ;
Ferrari, M.D. (Leiden University Medical Center) ;
Van Den Maagdenberg, A.M.J. (Leiden University Medical Center) ;
Verrotti, A. (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ;
Marseglia, G.L. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Savasta, S. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ;
Soler, M.A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ;
Scuderi, C. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Borgione, E. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ;
Chimenz, R. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Gitto, E. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Dipasquale, V. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Sallemi, A. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Fusco, M. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cuppari, C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Cutrupi, M.C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ;
Ruggieri, M. (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ;
Cama, A. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Capra, V. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ;
Mencacci, N.E. (Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Boles, R. (Courtagen Life Sciences) ;
Gupta, N. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Kabra, M. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ;
Papacostas, S. (The Cyprus Institute of Neurology and Genetics) ;
Zamba-Papanicolaou, E. (The Cyprus Institute of Neurology and Genetics) ;
Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ;
Maqbool, S. (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ;
Rana, N. (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ;
Atawneh, O. (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ;
Lim, S.Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ;
Shaikh, F. (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ;
Koutsis, G. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Breza, M. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ;
Coviello, D.A. (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ;
Dauvilliers, Y.A. (University Hospital of Montpellier (França)) ;
AlKhawaja, I. (Albashir University Hospital) ;
AlKhawaja, M. (Prince Hamzah Hospital. Ministry of Health) ;
Al-Mutairi, F. (King Saud University) ;
Stojkovic, T. (Institute of Myology. Hôpital La Pitié Salpêtrière) ;
Ferrucci, V. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Zollo, M. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ;
Alkuraya, F.S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Kinali, M. (The Portland Hospital) ;
Sherifa, H. (Assiut University Hospital) ;
Benrhouma, H. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Turki, I.B.Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ;
Tazir, M. (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ;
Obeid, M. (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ;
Bakhtadze, S. (Department of Child Neurology. Tbilisi State Medical University) ;
Saadi, N.W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ;
Zaki, M.S. (Human Genetics and Genome Research Division. National Research Centre) ;
Triki, C.C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ;
Benfenati, F. (Istituto Italiano di Tecnologia) ;
Gustincich, S. (Istituto Italiano di Tecnologia) ;
Kara, M. (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ;
Belcastro, V. (Neurology Unit. S. Anna Hospital) ;
Specchio, N. (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Capovilla, G. (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ;
Karimiani, E.G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ;
Salih, A.M. (Medical University of Duhok) ;
Okubadejo, N.U. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Ojo, O.O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oshinaike, O.O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Oguntunde, O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ;
Wahab, K. (University of Ilorin Teaching Hospital (UITH)) ;
Bello, A.H. (University of Ilorin Teaching Hospital (UITH)) ;
Abubakar, S. (Ahmadu Bello University) ;
Obiabo, Y. (Delta State University Teaching Hospital) ;
Nwazor, E. (Federal Medical Centre) ;
Ekenze, O. (University of Nigeria Teaching Hospital) ;
Williams, U. (University of Calabar Teaching Hospital) ;
Iyagba, A. (University of Port Harcourt Teaching Hospital) ;
Taiwo, L. (Babcock University. Ilishan. Remo & Federal Medical Centre) ;
Komolafe, M. (Obafemi Awolowo University Teaching Hospital (OAUTH)) ;
Senkevich, K. (Pavlov First Saint Petersburg State Medical University) ;
Shashkin, C. (Kazakh National State University) ;
Zharkynbekova, N. (Shymkent Medical Academy) ;
Koneyev, K. (Kazakh National State University) ;
Manizha, G. (Avicenna Tajik State Medical University) ;
Isrofilov, M. (Avicenna Tajik State Medical University) ;
Guliyeva, U. (Mediclub clinic) ;
Salayev, K. (Azerbaijan State Medical University) ;
Khachatryan, S. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ;
Rossi, S. (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Silvestri, G. (Department of Neurology. Università Cattolica del Sacro Cuore) ;
Haridy, N. (Department of Neurology and Psychiatry. Assuit University Hospital) ;
Ramenghi, L.A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ;
Xiromerisiou, G. (Department of Neurology. Medical School. University of Thessaly) ;
David, E. (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ;
Aguennouz, M. (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ;
Fidani, L. (Department of Biology. Medical School. Aristotle University) ;
Spanaki, C. (Department of Neurology. Medical School. University of Crete) ;
Tucci, A. (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Chez, M. (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ;
Tsai, A. (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ;
Fassi, E. (Department of Pediatrics. Washington University School of Medicine) ;
Shinawi, M. (Department of Pediatrics. Washington University School of Medicine) ;
Constantino, J.N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ;
De Zorzi, R. (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ;
Kok, F. (Mendelics Genomic Analysis) ;
Keren, B. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ;
Bonneau, D. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ;
Choi, M. (Department of Biomedical Sciences. Seoul National University) ;
Benzeev, B. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ;
Zara, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ;
Mefford, H.C. (Department of Pediatrics. University of Washington) ;
Scheffer, I.E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ;
Clayton-Smith, J. (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Rothman, J.E. (Department of Cell Biology. Yale University School of Medicine) ;
Eichler, E.E. (Howard Hughes Medical Institute. University of Washington) ;
Kullmann, D.M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ;
Houlden, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 -  10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094
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