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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Nature Communications, Volume 10, No. 1, Article 3094, Year 2019
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Description
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 Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a decrease in agonist-evoked current mediated by mutant subunits compared to wild-type channels. When GluA2 subunits are co-expressed with GluA1, most GRIA2 mutations cause a decreased current amplitude and some also affect voltage rectification. Our results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission. © 2019, The Author(s).
Authors & Co-Authors
Salpietro, Vincenzo Damiano
United Kingdom, London
Ucl Queen Square Institute of Neurology
Italy, Genoa
Istituto Giannina Gaslini
Italy, Genoa
Università Degli Studi Di Genova
Bello, Oscar
United Kingdom, London
Ucl Queen Square Institute of Neurology
Vandrovcova, J.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Efthymiou, Stephanie
United Kingdom, London
Ucl Queen Square Institute of Neurology
Maroofian, Reza
United Kingdom, London
Ucl Queen Square Institute of Neurology
Heimer, Gali
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Bürglen, Lydie
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Valence, Stéphanie
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Torti, Erin E.
United States, Gaithersburg
Genedx, Inc.
Rankin, Julia
United Kingdom, Exeter
Royal Devon and Exeter Nhs Foundation Trust
Tariq, Huma
United Kingdom, London
Ucl Queen Square Institute of Neurology
Colin, Estelle
France, Angers
Chu Angers
France, Paris
Inserm
Procaccio, Vincent
France, Angers
Chu Angers
France, Paris
Inserm
Striano, Pasquale
Italy, Genoa
Istituto Giannina Gaslini
Italy, Genoa
Università Degli Studi Di Genova
Mankad, Kshitij
United Kingdom, London
Great Ormond Street Hospital for Children Nhs Foundation Trust
Pisani, Laura Rosa
United States, Hempstead
Donald and Barbara Zucker School of Medicine at Hofstra/northwell
Bettencourt, C.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Männikkö, Roope
United Kingdom, London
Ucl Queen Square Institute of Neurology
Manole, Andreea
United Kingdom, London
Ucl Queen Square Institute of Neurology
Brusco, Alfredo
Italy, Turin
Università Degli Studi Di Torino
Ferrero, Glovanni B.
Italy, Turin
Università Degli Studi Di Torino
Bar-Yosef, Omer
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Tzadok, Michal Schrift
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Monaghan, Kristin G.
United States, Gaithersburg
Genedx, Inc.
Santiago-Sim, Teresa C.
United States, Gaithersburg
Genedx, Inc.
Person, Richard Erwin
United States, Gaithersburg
Genedx, Inc.
Cho, Megan Truitt
United States, Gaithersburg
Genedx, Inc.
Willaert, Rebecca K.
United States, Gaithersburg
Genedx, Inc.
Chae, Jong-hee
South Korea, Seoul
Seoul National University
Bernier, Raphael A.
United States, Seattle
University of Washington
Jain, Mahim
Unknown Affiliation
Motazacker, Mohammad Mahdi
Netherlands, Amsterdam
Universiteit Van Amsterdam
Schneider, Amy L.
Australia, Melbourne
Austin Health
Boysen, Katja E.
Australia, Melbourne
Austin Health
Muir, Alison M.
United States, Seattle
University of Washington
Myers, Candace T.
United States, Seattle
University of Washington
Gavrilova, Ralitza H.
United States, Rochester
Mayo Clinic
Schultz-Rogers, Laura E.
United States, Rochester
Mayo Clinic
Klee, Eric W.
United States, Rochester
Mayo Clinic
Dyment, David Alexandre
Canada, Ottawa
University of Ottawa
Osmond, Matthew
Canada, Ottawa
University of Ottawa
Canada, Montreal
Centre Universitaire de Santé Mcgill
Parellada-Redondo, Mara José
Spain, Madrid
Centro de Investigación Biomédica en Red de Salud Mental
González-Peñas, Javier
Spain, Madrid
Hospital General Universitario Gregorio Marañón
Carracedo, Ángel M.
Spain, Madrid
Centro de Investigación Biomédica en Red de Enfermedades Raras
van Haeringen, Arie
Netherlands, Leiden
Universiteit Leiden
Ruivenkamp, Claudia Antoinette Laetitia
Netherlands, Leiden
Universiteit Leiden
Nava, Caroline
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Héron, Délphine
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Iacomino, Michele
Italy, Genoa
Istituto Giannina Gaslini
Minetti, C.
Italy, Genoa
Istituto Giannina Gaslini
Italy, Genoa
Università Degli Studi Di Genova
Hanna, Michael G.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Bugiardini, Enrico
United Kingdom, London
Ucl Queen Square Institute of Neurology
Charlotte Hostettler, Isabel
United Kingdom, London
Ucl Queen Square Institute of Neurology
Khan, Alaa Matooq
United Kingdom, London
Ucl Queen Square Institute of Neurology
Cortese, A.
United Kingdom, London
Ucl Queen Square Institute of Neurology
O’Connor, Emer
United Kingdom, London
Ucl Queen Square Institute of Neurology
Yau, Wai Yan
United Kingdom, London
Ucl Queen Square Institute of Neurology
Bourinaris, Thomas
United Kingdom, London
Ucl Queen Square Institute of Neurology
Kaiyrzhanov, Rauan
United Kingdom, London
Ucl Queen Square Institute of Neurology
Chelban, Viorica
United Kingdom, London
Ucl Queen Square Institute of Neurology
Bruno, Claudio
Italy, Genoa
Istituto Giannina Gaslini
Balagura, Ganna
Italy, Genoa
Università Degli Studi Di Genova
Scala, Marcello
Italy, Genoa
Università Degli Studi Di Genova
Fiorillo, Chiara
Italy, Genoa
Università Degli Studi Di Genova
Malintan, Nancy T.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Zanetti, María Natalia
United Kingdom, London
Ucl Queen Square Institute of Neurology
Krishnakumar, Shyam S.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Lignani, Gabriele
United Kingdom, London
Ucl Queen Square Institute of Neurology
Jepson, James E.C.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Baldassari, Simona
Italy, Genoa
Istituto Giannina Gaslini
Fruscione, Floriana
Italy, Genoa
Istituto Giannina Gaslini
Madia, Francesca
Italy, Genoa
Istituto Giannina Gaslini
Traverso, Monica
Italy, Genoa
Istituto Giannina Gaslini
De-Marco, Patrizia
Italy, Genoa
Istituto Giannina Gaslini
Pérez-Dueñas, Belén
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Munell, Francina
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Kriouile, Y.
Morocco, Agdal Rabat
Hôpital D'enfants
El-Khorassani, Mohammed
Morocco, Agdal Rabat
Hôpital D'enfants
Karashova, Blagovesta Marinova
Bulgaria, Sofia
Medical University of Sofia
Avdjieva - Tzavella, Daniela Mircheva
Bulgaria, Sofia
Medical University of Sofia
Kathom, Hadil Mohamed
Bulgaria, Sofia
Medical University of Sofia
Tincheva, Radka Stefanova
Bulgaria, Sofia
Medical University of Sofia
Van-Maldergem, Lionel
Belgium, Liege
Centre Hospitalier Universitaire de Liege
Nachbauer, Wolfgang
Austria, Innsbruck
Medizinische Universitat Innsbruck
Boesch, Sylvia M.
Austria, Innsbruck
Medizinische Universitat Innsbruck
Gagliano, Antonella
Italy, Cagliari
Università Degli Studi Di Cagliari
Goraya, Jatinder Singh
Unknown Affiliation
Sultan, Tipu
Pakistan, Lahore
The Children’s Hospital
Kirmani, Salman
Pakistan, Karachi
The Aga Khan University Hospital
Ibrahim, Shahnaz Hamid
Pakistan, Karachi
The Aga Khan University Hospital
Jan, Farida
Pakistan, Karachi
The Aga Khan University Hospital
Mine, Jyun
Japan, Izumo
Shimane University Faculty of Medicine
Banu, Selina H.
Unknown Affiliation
Veggiotti, Pierangelo
Italy, Milan
Ospedale Dei Bambini Vittore Buzzi
Zuccotti, Gianvincenzo Vincenzo
Italy, Milan
Ospedale Dei Bambini Vittore Buzzi
Ferrari, Michel Dominique
Netherlands, Leiden
Leids Universitair Medisch Centrum
van den Maagdenberg, Arn Mjm
Netherlands, Leiden
Leids Universitair Medisch Centrum
Verrottï, Alberto
Italy, L'aquila
Ospedale S. Salvatore
Marseglia, Gian Luigi
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Savasta, Salvatore M.
Italy, Pavia
Fondazione Irccs Policlinico San Matteo
Scuderi, Carmela
Italy, Troina
Oasi Research Institute-irccs
Borgione, Eugenia
Italy, Troina
Oasi Research Institute-irccs
Chimenz, Roberto R.
Italy, Messina
Università Degli Studi Di Messina
Gitto, E.
Italy, Messina
Università Degli Studi Di Messina
Dipasquale, Valeria
Italy, Messina
Università Degli Studi Di Messina
Cuppari, Caterina
Italy, Messina
Università Degli Studi Di Messina
Cutrupi, Maria Concetta
Italy, Messina
Università Degli Studi Di Messina
Ruggieri, Martino
Italy, Catania
Università Degli Studi Di Catania
Cama, Armando
Italy, Genoa
Istituto Giannina Gaslini
Capra, Valeria
Italy, Genoa
Istituto Giannina Gaslini
Mencacci, Niccolò Emanuele
United States, Chicago
Northwestern University Feinberg School of Medicine
Boles, Richard G.
Unknown Affiliation
Gupta, Neerja
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Kabra, Madhulika
India, New Delhi
All India Institute of Medical Sciences, new Delhi
Papacostas, Savvas S.
Cyprus, Nicosia
Cyprus Institute of Neurology and Genetics
Zamba-Papanicolaou, Eleni
Cyprus, Nicosia
Cyprus Institute of Neurology and Genetics
Dardiotis, Efthymios
Greece, Larissa
University Hospital of Larissa
Maqbool, Shazia
Pakistan, Lahore
Children's Hospital Lahore
Rana, Nuzhat Noureen
Unknown Affiliation
Atawneh, Osama M.
Unknown Affiliation
Lim, Shenyang
Malaysia, Kuala Lumpur
University of Malaysia
Shaikh, Mohd Farooq
Malaysia, Bandar Sunway
Monash University Malaysia
Koutsis, Georgios
Greece, Athens
National and Kapodistrian University of Athens
Breza, Marianthi
Greece, Athens
National and Kapodistrian University of Athens
Coviello, Domenico A.
Italy, Genoa
Istituto Giannina Gaslini
Dauvilliers, Yves A.
France, Montpellier
Centre Hospitalier Universitaire de Montpellier
AlKhawaja, Issam Azmi
Unknown Affiliation
AlKhawaja, Mariam
Jordan, Amman
Prince Hamzah Hospital
Al-Mutairi, Fuad
Saudi Arabia, Riyadh
King Saud University
Stojkovic, Tanya
France, Paris
Hôpital Universitaire Pitié Salpêtrière
ZOLLO, M.
Italy, Naples
Ceinge-biotecnologie Avanzate S.c.a R.l.
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Kinali, Maria
Unknown Affiliation
Hamed, Sherifa Ahmed
Egypt, Asyut
Assiut University
Benrhouma, Hanène
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Turki, Ilhem Ben Youssef
Tunisia, Tunis
Institut National de Neurologie Mongi-ben Hamida
Tazir, Mériem
Unknown Affiliation
Obeid, Makram
Lebanon, Beirut
American University of Beirut
Bakhtadze, Sophia Z.
Georgia, Tbilisi
Tbilisi State Medical University
Saadi, Nebal Waill
Iraq, Baghdad
University of Baghdad
Zaki, Maha S.
Egypt, Giza
National Research Centre
Triki, Chahnez Charfi
Tunisia, Sfax
Chu Hedi-chaker
Gustincich, Stefano
Italy, Genoa
Istituto Italiano Di Tecnologia
Kara, Majdi
Libya, Tripoli
University of Tripoli
Specchio, Nicola
Italy, Rome
Irccs Ospedale Pediatrico Bambino Gesù
Karimiani, Ehsan Ghayoor
United Kingdom, London
St George’s, University of London
Okubadejo, Njideka U.
Nigeria, Lagos
University of Lagos
Ojo, Oluwadamilola Omolara
Nigeria, Lagos
University of Lagos
Oguntunde, Olapeju Funke
Nigeria, Lagos
University of Lagos
Wahab, Kolawole Wasiu
Nigeria, Ilorin
University of Ilorin
Bello, Abiodun Hamzat
Nigeria, Ilorin
University of Ilorin
Obiabo, Yahaya Olugbo
Nigeria, Delta State
Delta State University Teaching Hospital
Nwazor, Ernest Okwundu
Nigeria
Federal Medical Centre Nigeria
Ekenze, Oluchi S.
Nigeria, Naukka
University of Nigeria
Williams, Uduak Effiong
Nigeria, Calabar
University of Calabar
Iyagba, Alagoma M.
Nigeria, Port Harcourt
University of Port Harcourt
Komolafe, Morenikeji Adeyoyin
Nigeria, Ife
Obafemi Awolowo University Teaching Hospitals Complex
Senkevich, Konstantin
Russian Federation, Saint Petersburg
Almazov National Medical Research Centre
Shashkin, Chingiz
Kazakhstan, Almaty
Al Farabi Kazakh National University
Zharkinbekova, N. A.
Unknown Affiliation
Koneyev, Kairgali
Kazakhstan, Almaty
Al Farabi Kazakh National University
Manizha, Ganieva
Unknown Affiliation
Isrofilov, Maksud
Unknown Affiliation
Guliyeva, Ulviyya
Unknown Affiliation
Salayev, Kamran A.
Azerbaijan, Baku
Azerbaycan Tibb Universiteti
Khachatryan, Samson G.
Armenia, Yerevan
Sleep and Movement Disorders Center
Silvestri, Gabriella
Italy, Rome
Università Cattolica Del Sacro Cuore, Campus Di Roma
Haridy, Nourelhoda A.
Egypt, Asyut
Assiut University
Xiromerisiou, Georgia
Greece, Volos
University of Thessaly
David, Emanuele
Unknown Affiliation
Aguennouz, M’Hammed H.
Italy, Messina
Università Degli Studi Di Messina
Fidani, Liana
Greece, Thessaloniki
Aristotle University of Thessaloniki
Spanaki, Cleanthe
Greece, Rethymnon
University of Crete
Tucci, Arianna
United Kingdom, London
Queen Mary University of London
Raspall-Chaure, Miquel
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Fassi, Emily
United States, St. Louis
Washington University School of Medicine in St. Louis
Shinawi, Marwan S.
United States, St. Louis
Washington University School of Medicine in St. Louis
Constantino, John Nicholas
United States, St. Louis
Washington University School of Medicine in St. Louis
De Zorzi, Rita
Italy, Trieste
Università Degli Studi Di Trieste
Fortuna, Sara
Italy, Trieste
Università Degli Studi Di Trieste
Kok, Fernando
Brazil, Sao Paulo
Universidade de São Paulo
Brazil, Sao Paulo
Mendelics Genomic Analysis
Keren, Boris
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
Bonneau, Dominique
France, Angers
Chu Angers
France, Paris
Inserm
Choi, Murim
South Korea, Seoul
Seoul National University
BenZeev, Bruria
Israel, Tel Hashomer Tel Aviv
Chaim Sheba Medical Center Israel
Zara, Federico
Italy, Genoa
Istituto Giannina Gaslini
Mefford, Heather C.
United States, Seattle
University of Washington
Scheffer, Ingrid E.
Australia, Melbourne
Austin Health
Clayton-Smith, Jill
United Kingdom, Manchester
Manchester University Nhs Foundation Trust
United Kingdom, Manchester
The University of Manchester
Macaya, Alfons
Spain, Cerdanyola Del Valles
Universitat Autònoma de Barcelona
Rothman, James E.
United Kingdom, London
Ucl Queen Square Institute of Neurology
United States, New Haven
Yale School of Medicine
Eichler, Evan E.
United States, Seattle
University of Washington School of Medicine
United States, Chevy Chase
Howard Hughes Medical Institute
Kullmann, Dimitri M.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Houlden, Henry H.
United Kingdom, London
Ucl Queen Square Institute of Neurology
Statistics
Citations: 120
Authors: 194
Affiliations: 102
Identifiers
Doi:
10.1038/s41467-019-10910-w
ISSN:
20411723
Research Areas
Disability
Genetics And Genomics