المؤلفون: Bayat, A, Valles-Ibanez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O'Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczynska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Moller, RS, Sadleir, LG

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/297831
NHMRC/2006841

المؤلفون: Bayat A; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., de Valles-Ibáñez G; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Pendziwiat M; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian Albrecht University, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian Albrecht University of Kiel, Kiel, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rhenish Friedrich Wilhelm University of Bonn, Bonn, Germany., Alt K; Center for Human Genetics, Neu-Ulm, Germany., Biamino E; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Bley A; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Center for Rare Diseases, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Calvert S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Carney P; Department of Medicine, University of Melbourne, Parkville, Victoria, Australia., Caro-Llopis A; Genomics Unit, University and Polytechnic Hospital La Fe, Valencia, Spain., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium., Cousin J; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA., Davis S; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., des Portes V; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Edery P; Department of Medical Genetics, University Hospital of Lyon, Lyon, France., England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts, USA., Ferreira C; National Human Genome Research Institute, Bethesda, Maryland, USA., Freeman J; Royal Children's Hospital, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Gener B; Department of Genetics, Cruces University Hospital, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain., Gorce M; Angers University Hospital, Angers, France., Heron D; Department of Genetics, Intellectual Disability and Autism Clinical Research Group, Pierre and Marie Curie University, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Hildebrand MS; Royal Children's Hospital, Florey institute and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Epilepsy Research Centre, Department of Medicine (Austin Health), University of Melbourne, Heidelberg, Victoria, Australia., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Jouk PS; Inserm U1209, Grenoble Alpes University Hospital Center, University of Grenoble Alpes, Grenoble, France., Keren B; Department of Genetics, Intellectual Disability and Autism Clinical Research Group, Pierre and Marie Curie University, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kluger G; Center for Human Genetics, Neu-Ulm, Germany., Kuhn M; Center for Human Genetics, Neu-Ulm, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Li H; Emory University School of Medicine, Atlanta, Georgia, USA., Martinez F; Genomics Unit, University and Polytechnic Hospital La Fe, Valencia, Spain., Maxton C; Clinic for Pediatric Neurology, Hamburg, Germany., Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St, Jude Children's Research Hospital, Memphis, Tennessee, USA., Merla G; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Mierzewska H; Department of Child and Adolescent Neurology, Institute of Mother and Child, Warsaw, Poland., Muir A; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St, Jude Children's Research Hospital, Memphis, Tennessee, USA., Monfort S; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Norman J; INTEGRIS Pediatric Neurology, Oklahoma City, Oklahoma, USA., O'Grady G; Starship Children's Hospital, Auckland, New Zealand., Oleksy B; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany., Orellana C; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Orec LE; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Peinhardt C; Emory University School of Medicine, Atlanta, Georgia, USA., Pronicka E; Clinical Genetics, La Paz University Hospital, Madrid, Spain., Rosello M; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Santos-Simarro F; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Schwaibold EMC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann APA; Department of Clinical Genetics and School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands., Stumpel CT; Department of Genetics, University of Bourgogne-Franche Comté, Dijon, France., Szczepanik E; Center for Child and Adolescent Medicine, Pediatric Neurology, Heidelberg University Hospital, Heidelberg, Germany., Terczyńska I; Institute of Clinical Genetics, Dresden University of Technology, Dresden, Germany., Thevenon J; Neurology Department, University Hospital Antwerp, Antwerp, Belgium., Tzschach A; Applied and Translational Genomics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Van Bogaert P; Angers University Hospital, Angers, France., Vittorini R; Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy., Walsh S; Applied and Translational Genomics Group, Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Weissman B; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland., Wolfe L; National Human Genome Research Institute, Bethesda, Maryland, USA., Reymond A; Giannina Gaslini Institute, Genoa, Italy., De Nittis P; Giannina Gaslini Institute, Genoa, Italy., Poduri A; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Olson H; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Striano P; Giannina Gaslini Institute, Genoa, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon, Lyon, France., Scheffer IE; Royal Children's Hospital, Florey institute and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Departments of Medicine and Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

المصدر: Epilepsia [Epilepsia] 2022 Apr; Vol. 63 (4), pp. 974-991. Date of Electronic Publication: 2022 Feb 18.

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

بيانات الدورية: Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

مواضيع طبية MeSH: Drug Resistant Epilepsy* , Epilepsy*/diagnostic imaging , Epilepsy*/genetics , Intellectual Disability*/diagnostic imaging , Intellectual Disability*/genetics, Electroencephalography ; Female ; Humans ; Phenotype ; Seizures/genetics

المؤلفون: Brugger M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Wagner M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München GmbH, German Research Center for Environmental Health, Neuherberg, Germany., Orec LE; Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schwaibold EMC; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Boy N; Division of Pediatric Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

المصدر: Gene [Gene] 2021 Feb 05; Vol. 768, pp. 145260. Date of Electronic Publication: 2020 Oct 22.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder/*genetics , Developmental Disabilities/*genetics , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics , Plasma Membrane Neurotransmitter Transport Proteins/*genetics, Brain Diseases, Metabolic, Inborn/genetics ; Child ; Chromosomes, Human, Pair 16/genetics ; Comparative Genomic Hybridization ; Creatine/deficiency ; Creatine/genetics ; Female ; Gene Duplication/genetics ; Genetic Testing ; Humans ; Male ; Mental Retardation, X-Linked/genetics ; Muscle Hypotonia/genetics ; Plasma Membrane Neurotransmitter Transport Proteins/deficiency ; Siblings ; Exome Sequencing

SCR Disease Name: Creatine deficiency, X-linked