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Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.
Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo.
Afiliação
  • Pavinato L; Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona, Switzerland; Università della Svizzera Italiana, Lugano, Switzerland.
  • Stanic J; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Barzasi M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Gurgone A; Department of Neuroscience, University of Turin, Turin, Italy.
  • Chiantia G; Department of Neuroscience, University of Turin, Turin, Italy.
  • Cipriani V; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom.
  • Eberini I; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Palazzolo L; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Di Luca M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Costa A; Department of Biosciences, University of the Studies of Milan, Milan, Italy; Institute of Biophysics, Consiglio Nazionale delle Ricerche (CNR), Milan, Italy.
  • Marcantoni A; Department of Drug Science and Technology, University of Turin, Turin, Italy.
  • Biamino E; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy.
  • Spada M; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy.
  • Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL.
  • Vestito L; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom.
  • Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom; Chalfont Centre for Epilepsy Bucks, Chalfont St Peter, United Kingdom.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan.
  • Kaiyrzhanov R; University College London, UCL Queen Square Institute of Neurology, London, United Kingdom.
  • Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
  • Cardaropoli S; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
  • De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman
  • Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman
  • Smedley D; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom.
  • Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, TO, Italy.
  • Giustetto M; Department of Neuroscience, University of Turin, Turin, Italy.
  • Gardoni F; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy.
  • Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address: alfredo.brusco@unito.it.
Genet Med ; 25(11): 100922, 2023 11.
Article em En | MEDLINE | ID: mdl-37403762
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article