المؤلفون: Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark. Electronic address: abaya@filadelfia.dk., Liu Z; Department of Biology, University of Pennsylvania, Philadelphia, PA; National Engineering Laboratory for AIDS Vaccine, School of Life Sciences, Jilin University, Changchun, China., Luo S; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark., Højte AF; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Isidor B; Department of Genetics, CHU Nantes, Nantes, France; University of Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Department of Genetics, CHU Nantes, Nantes, France; University of Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Larson A; University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO., Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy., Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy., Keren B; Department of Neurology, Epileptology Unit, Reference Center for Rare Epilepsies, Sorbonne University, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' Trieste, Italy., Gourfinkel-An I; Department of Neurology, Epileptology Unit, Reference Center for Rare Epilepsies, Sorbonne University, La Pitié-Salpêtrière Hospital, AP-HP, Paris, France., Perrine C; Department of Medical Genetics, Pitié-Salpêtrière Hospital, AP-HP, University of Sorbonne, Paris, France., Demily C; GénoPsy, Reference Center for Diagnosis and Management of Genetic Psychiatric Disorders, Vinatier Hospital Center and EDR-Psy Team (National Center for Scientific Research and Lyon 1 Claude Bernard University), Lyon, France; iMIND Excellence Center for Autism and Neurodevelopmental Disorders, Lyon, France., Lesca G; Department of Medical Genetics, University Hospital of Lyon, Lyon, France., Liao W; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China. Electronic address: wpliao@163.net., Ren D; Department of Biology, University of Pennsylvania, Philadelphia, PA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Sep; Vol. 25 (9), pp. 100894. Date of Electronic Publication: 2023 May 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: Epilepsy* , Intellectual Disability*/genetics , Intellectual Disability*/pathology , Neurodevelopmental Disorders*/genetics , Membrane Proteins*/genetics, Animals ; Humans ; Mice ; Drosophila/genetics ; Phenotype

المؤلفون: Neri S; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Medical and Surgical Sciences, 'Magna Graecia' University, Catanzaro, Italy., Maia N; Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal., Fortuna AM; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal., Damasio J; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal; Serviço de Neurologia, Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; CGPP and UnIGENE, Instituto de Biologia Molecular e Celular, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal., Coale E; Department of Maternal-Fetal Medicine, University of Washington Medical Center, Seattle, WA, USA., Willis M; Department of Pediatrics, Naval Medical Center San Diego, San Diego, CA, USA., Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal; UMIB - Unit for Multidisciplinary Research in Biomedicine, ICBAS - School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal, and ITR - Laboratory for Integrative and Translational Research in Population Health, Porto, Portugal., Højte AF; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark., Fenger CD; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark., Møller RS; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark., Bayat A; Danish Epilepsy Centre, Department of Epilepsy Genetics and Personalized Medicine, DK-4293, Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark. Electronic address: abaya@filadelfia.dk.

المصدر: European journal of medical genetics [Eur J Med Genet] 2022 Nov; Vol. 65 (11), pp. 104624. Date of Electronic Publication: 2022 Sep 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Craniofacial Abnormalities*/genetics , Dandy-Walker Syndrome*/genetics, Female ; Humans ; Pregnancy ; Abnormalities, Multiple ; Heart Septal Defects, Atrial ; Hydrolases/genetics ; Microtubule-Associated Proteins/genetics ; Phenotype ; Proteins/genetics ; Syndrome

SCR Disease Name: 3C syndrome

المؤلفون: Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark. abaya@filadelfia.dk.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. abaya@filadelfia.dk., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.; Amplexa Genetics A/S, Odense, Denmark., Techlo TR; Department of Neurology, Danish Headache Center, Copenhagen University Hospital, Glostrup, Denmark., Højte AF; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark., Nørgaard I; Amplexa Genetics A/S, Odense, Denmark., Hansen TF; Department of Neurology, Danish Headache Center, Copenhagen University Hospital, Glostrup, Denmark.; Novo Nordic Foundation Center for Protein Research, Copenhagen University, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.; Copenhagen University, Copenhagen, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Group DCCRS

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2022 Jul; Vol. 19 (4), pp. 1353-1367. Date of Electronic Publication: 2022 Jun 20.

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

بيانات الدورية: Publisher: Springer Country of Publication: United States NLM ID: 101290381 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-7479 (Electronic) Linking ISSN: 18787479 NLM ISO Abbreviation: Neurotherapeutics Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/diagnosis , Epilepsy*/genetics, Humans ; Child ; Adolescent ; Genetic Testing/methods