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Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.

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Title: Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
Authors: Sjøstrøm E; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark., Studniarczyk D; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Dou X; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Dahl RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Cruz V; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA., Wang H; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA., Mercier S; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Deb W; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Besnard T; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France., Friedman J; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Essid M; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia., Karoui S; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Jemaa LB; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Benyounes T; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon-Université Claude Bernard Lyon 1, Lyon, France., Tonduti D; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy.; Department of Biomedical and Clinical Sciences, University of Milano, Milano, Italy., Iascone M; Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy., Orcesi S; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy., Fradin M; Genetic Department, Centre Labellise Deficiences Intellectuelles Rares, Rennes University Hospital, Rennes, France., Dubourg C; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France., Napuri S; Department of Pediatric Neurology, Rennes, France., Cull-Candy SG; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Coombs ID; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Farrant M; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK., Bayat A; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
Source: Clinical genetics [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 553-565. Date of Electronic Publication: 2025 May 20.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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  Data: Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.
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  Data: <searchLink fieldCode="AU" term="%22Sjøstrøm+E%22">Sjøstrøm E</searchLink>; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Studniarczyk+D%22">Studniarczyk D</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Dou+X%22">Dou X</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Dahl+RS%22">Dahl RS</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.<br /><searchLink fieldCode="AU" term="%22Cruz+V%22">Cruz V</searchLink>; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Wang+H%22">Wang H</searchLink>; DDC Clinic for Special Needs Children, Middlefield, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Mercier+S%22">Mercier S</searchLink>; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Genetic Department, CHU Nantes, Nantes, France.; L'institut du Thorax, University of Nantes, CNRS, INSERM, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Friedman+J%22">Friedman J</searchLink>; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.<br /><searchLink fieldCode="AU" term="%22Essid+M%22">Essid M</searchLink>; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia.<br /><searchLink fieldCode="AU" term="%22Karoui+S%22">Karoui S</searchLink>; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Jemaa+LB%22">Jemaa LB</searchLink>; Genetic Department, Mongi Slim Hospital, La Marsa, Tunisia.; Maternal and Child Health Laboratory, LR22SP01, Mongi Slim Hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.<br /><searchLink fieldCode="AU" term="%22Benyounes+T%22">Benyounes T</searchLink>; Department of Pediatric Neurology and Research Laboratory LR18SP04, National Institute Mongi Ben Hmida of Neurology of Tunis, Rabta, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.<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, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon-Université Claude Bernard Lyon 1, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; Unit of Pediatric Neurology, COALA (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy.; Department of Biomedical and Clinical Sciences, University of Milano, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo, Italy.<br /><searchLink fieldCode="AU" term="%22Orcesi+S%22">Orcesi S</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Fradin+M%22">Fradin M</searchLink>; Genetic Department, Centre Labellise Deficiences Intellectuelles Rares, Rennes University Hospital, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Dubourg+C%22">Dubourg C</searchLink>; Department of Molecular Genetics and Genomics, Rennes University Hospital, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Napuri+S%22">Napuri S</searchLink>; Department of Pediatric Neurology, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Cull-Candy+SG%22">Cull-Candy SG</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Coombs+ID%22">Coombs ID</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Farrant+M%22">Farrant M</searchLink>; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
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