Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
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| Title: | Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome. |
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| Authors: | Serpieri V; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Vezain-Mouchard M; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Orsi A; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Lecointre M; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Mazzotta C; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy., Marguet F; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France., Garbelli A; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Marcorelles P; CHU Brest, Department of Pathology, 29200 Brest, France., Celli L; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Goldenberg A; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France; CH Le Havre, Department of Genetics, 76600 Le Havre, France., De Mori R; Induced Pluripotent Stem Cells and Organoids Unit, IRCCS Santa Luicia Foundation, 00179 Rome, Italy., Drouot N; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Petrizzelli F; Bioinformatics Laboratory, IRCSS Casa Sollievo Della Sofferenza, 71013 S. Giovanni Rotondo (FG), Italy., Janin F; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Nicolas G; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Smal N; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium., Condoluci C; Developmental Disabilities and Rehabilitation, IRCCS San Raffaele Roma, 00166 Rome, Italy., Marini C; Child Neurology and Psychiatric Unit, G. Salesi Pediatric Hospital, Azienda Ospedaliera-Universitaria Delle Marche, 60126 Ancona, Italy., Tran-Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic Génomique des maladies rares, CHU Dijon Bourgogne, and INSERM UMR1231 GAD, 21079 Dijon, France., Ruault V; Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndromes, Genetics Department, Montpellier Hospital, 34000 Montpellier, France., Micalizzi A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy; Medical Genetics Unit, San Pietro Fatebenefratelli Hospital, 00189 Rome, Italy., Bione S; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Mazza T; Computational Biology and Bioinformatics Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, 27100 Pavia, Italy; Neuroradiology Department, IRCCS Mondino Foundation, 27100 Pavia, Italy., Ginevrino M; Parkinson and Movement Disorders Unit, Study Center on Neurodegeneration (CESNE), Department of Neurosciences, University of Padua, 35121 Padua, Italy., Weckhuysen S; Translational Epilepsy Genomics Group, VIB Center for Molecular Neurology, VIB, 2610 Antwerp, Belgium; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, 2610 Antwerp, Belgium; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Bedois A; Service de Génétique, Eurofins Biomnis, Lyon, France., Desnous B; Department of Pediatric Neurology, Aix-Marseille University, Marseille, France., Hermitte L; Neuroradiology Department at Timone Hospital, Aix-Marseille University, Marseille, France., Rabie G; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine., Kanaan M; Hereditary Research Laboratory, Bethlehem University, Bethlehem, Palestine., Gonzalez BJ; Univ Rouen Normandie, INSERM U1245, 76000 Rouen, France., Sabbioneda S; Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', National Research Council (IGM-CNR), 27100 Pavia, Italy., Laquerrière A; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Pathology, 76000 Rouen, France., Saugier-Veber P; Univ Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Valente EM; Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, 27100 Pavia, Italy. Electronic address: enzamaria.valente@unipv.it. |
| Source: | American journal of human genetics [Am J Hum Genet] 2026 Mar 05; Vol. 113 (3), pp. 600-615. Date of Electronic Publication: 2026 Feb 19. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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