المؤلفون: Tessarech M; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: marine.tessarech@chu-lille.fr., Friocourt G; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Marguet F; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Lecointre M; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Le Mao M; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Díaz RM; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Mignot C; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France., Keren B; Department of Genetics, Center for Rare Causes of Intellectual Disabilities and UPMC Research Group 'Intellectual Disabilities and Autism' Paris, France; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Héron B; Sorbonne University, UPMC Univ Paris 06, UMR S 1127, INSERM U 1127, CNRS UMR 7225, ICM, Paris, France; Department of Pediatric Neurology, Reference Center of Lysosomal Diseases, Trousseau Hospital, APHP, GRC ConCer-LD, Sorbonne Universities, UPMC University, Paris, France., De Bie C; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Loisel D; Department of Radiology, Angers University Hospital, Angers, France., Delorme B; Department of Radiology, Angers University Hospital, Angers, France., Syrbe S; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Klabunde-Cherwon A; Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Callewaert B; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Dheedene A; Center for Medical Genetics, Department of Biomolecular Medicine, Gent, Belgium., Zidane-Marinnes M; Department of Pathology, Angers University Hospital, Angers, France., Guichet A; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Bris C; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Van Bogaert P; Department of Neuropediatrics, Angers University Hospital, Angers, France., Biquard F; Department of Gynecology, Angers University Hospital, Angers, France., Lenaers G; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Marcorelles P; Department of Pathology, Brest University Hospital, Brest, France., Ferec C; INSERM, Univ Brest, EFS, UMR 1078, GGB, Brest, France., Gonzalez B; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Procaccio V; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Vitobello A; UFR Des Sciences de Santé, INSERM-Université de Bourgogne UMR1231 GAD (Génétique des Anomalies du Développement), FHU-TRANSLAD, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bonneau D; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Laquerriere A; Univ Rouen Normandie, INSERM U1245 and Rouen University Hospital, Department of Pathology, Rouen, France., Khiati S; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France., Colin E; Department of Medical Genetics, Angers University Hospital, Angers, France; Mitovasc Unit, UMR CNRS 6015 INSERM 1083, University of Angers, Angers, France. Electronic address: escolin@chu-angers.fr.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 May; Vol. 26 (5), pp. 101087. Date of Electronic Publication: 2024 Jan 27.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Autism Spectrum Disorder*/pathology , Epilepsy*/genetics , Epilepsy*/pathology , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Interneurons*/metabolism , Interneurons*/pathology , Transcription Factors*/genetics , Transcription Factors*/metabolism , Sp Transcription Factors*/genetics, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Heterozygote ; Mutation, Missense/genetics ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Phenotype

المؤلفون: Li, J., Yang, M., Lewis, F.L., Zheng, M.

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