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. |
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| 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 |
| Database: | MEDLINE Ultimate |
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