المؤلفون: Mattison, KA, Tossing, G, Mulroe, F, Simmons, C, Butler, KM, Schreiber, A, Alsadah, A, Neilson, DE, Naess, K, Wedell, A, Wredenberg, A, Sorlin, A, McCann, E, Burghel, GJ, Menendez, B, Hoganson, GE, Botto, LD, Filloux, FM, Aledo-Serrano, A, Gil-Nagel, A, Tatton-Brown, K, Verbeek, NE, van der Zwaag, B, Aleck, KA, Fazenbaker, AC, Balciuniene, J, Dubbs, HA, Marsh, ED, Garber, K, Ek, J, Duno, M, Hoei-Hansen, CE, Deardorff, MA, Raca, G, Quindipan, C, van Hirtum-Das, M, Breckpot, J, Hammer, TB, Moller, RS, Whitney, A, Douglas, AGL, Kharbanda, M, Brunetti-Pierri, N, Morleo, M, Nigro, V, May, HJ, Tao, JX, Argilli, E, Sherr, EH, Dobyns, WB, Baines, RA, Warwicker, J, Parker, JA, Banka, S, Campeau, PM, Escayg, A

المصدر: Brain : a journal of neurology. 146(4):1357-1372

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151938915

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المؤلفون: Di Micco V; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark.; Epilepsy and Movement Disorders, Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.; Member of the European Reference Network EpiCARE., Affronte L; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Child Neuropsychiatry, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy., Khinchi MS; Department of Child Neurology, Danish Epilepsy Centre, Dianalund, Denmark., Rønde G; Department of Pediatrics, Herlev and Gentofte University Hospital, Copenhagen University, Copenhagen, Denmark., Miranda MJ; Department of Pediatrics, Herlev and Gentofte University Hospital, Copenhagen University, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Specchio N; Epilepsy and Movement Disorders, Neurology Unit, Bambino Gesù Children's Hospital, Rome, Italy.; Member of the European Reference Network EpiCARE., Beniczky S; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark.; Member of the European Reference Network EpiCARE.; Department of Clinical Neurophysiology, Aarhus University Hospital, Aarhus, Denmark., Olofsson K; Department of Child Neurology, Danish Epilepsy Centre, Dianalund, Denmark., Møller RS; Member of the European Reference Network EpiCARE.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics and Precision Treatment, Danish Epilepsy Centre, Dianalund, Denmark., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark.; Member of the European Reference Network EpiCARE.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Clinical Genetics and Precision Treatment, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.

المصدر: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Aug; Vol. 26 (4), pp. 520-526. Date of Electronic Publication: 2024 May 23.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE

مواضيع طبية MeSH: Electroencephalography*, Humans ; Female ; Child, Preschool ; Seizures/genetics ; Seizures/physiopathology ; Movement Disorders/genetics ; Movement Disorders/physiopathology

المؤلفون: Cuccurullo C; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.; Neurology and Stroke Unit, Ospedale del Mare Hospital, Naples, Italy., Cerulli Irelli E; Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy., Ugga L; Department of Advanced Biomedical Sciences, University Federico II, Naples, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., D'Amico A; Department of Radiology, 'Tortorella' private hospital, Salerno, Italy., Cabet S; Pediatric and Fetal Imaging, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France., Lesca G; Service de Génétique, Hospices Civils de Lyon, Bron, France.; Institut NeuroMyoGene, CNRS UMR5310, INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Bilo L; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Medical Genetic Unit, Istituti di Ricovero e Cura a Carattere Scientifico Istituto Giannina Gaslini, Genoa, Italy., Iliescu C; Department of Clinical Neurosciences, 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Barca D; Department of Pediatric Neurology, Expertise Center for Rare Diseases in Pediatric Neurology, member of the EpiCARE European Reference Network, 'Prof. Dr. Alex. Obregia' Clinical Hospital, Bucharest, Romania., Fung F; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Helbig K; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Ortiz-Gonzalez X; Department of Pediatrics and Neurology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA., Schelhaas HJ; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van der Linden I; Department of Neurology, Epilepsy Center Kempenhaeghe, Heeze, the Netherlands., Canafoglia L; Integrated Diagnostics for Epilepsy, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Courage C; Folkhälsan Research Center, Helsinki, Finland.; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gommaraschi S; Department of Biomedical and Clinical Science, University of Milan, Milan, Italy., Gonzalez-Alegre P; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Bardakjian T; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, Philadelphia, USA., Syrbe S; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Schuler E; Division of Paediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Vari S; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Roende G; Department of Pediatrics and Adolescent Medicine, University Hospital Rigshopitalet, Copenhagen, Denmark., Bak M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Huq M; Department of Pediatrics, Wayne State University, Detroit, Michigan, USA., Powis Z; Ambry Genetics, Department of Emerging Genetic Medicine, CGC 15 Argonaut, Aliso Viejo, California, USA., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA., Zupanc ML; Children's Health of Orange County, Orange, California, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, California, USA., Cohen J; Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Naidu S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Saneto R; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA., Thies J; Seattle Children's Research Institute, University of Washington, Seattle, Washington, USA., Licchetta L; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Tinuper P; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Bisulli F; IRCCS, Istituto Delle Scienze Neurologiche di Bologna, full member of the EpiCARE European Reference Network, Bologna, Italy., Minardi R; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, Marseille, France., Molinari F; Biolab, PolitoBIOMedLab, Department of Electronics and Telecommunications, Politecnico di Torino, Turin, Italy., Salimi Dafsari H; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Max Planck Institute for Biology of Ageing, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University of Cologne, Cologne, Germany.; Department of Paediatric Neurology, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London, UK., Moller B; Department of Pediatrics, Faculty of Medicine, University of Cologne and University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Le Roux M; Department of Pediatric Neurology and Neurosurgery, CHU, Angers, France., Houdayer C; Service de Génétique Médicale, Université d'Angers, CHU d'Angers, Inserm, CNRS, MITOVASC, SFR ICAT, Angers, France., Vecchi M; University of Padua, Padua, Italy., Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy., Fiorini E; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Proietti J; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy., Ferri S; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy., Cantalupo G; Child Neuropsychiatry Unit, University Hospital of Verona, full member of the EpiCARE European Reference Network, Verona, Italy.; Center for Research on Epilepsy in Pediatric Age, University Hospital of Verona, Verona, Italy.; Innovation Biomedicine Section, Department of Engineering for Innovation Medicine, University of Verona, Verona, Italy., Battaglia DI; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Università Cattolica del Sacro Cuore, Rome, Italy., Gambardella ML; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Contaldo I; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Brogna C; Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Neuropsychiatric Unit, ASL Avellino, Avellino, Italy., Trivisano M; Neurology, Epilepsy, and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, full member of the EpiCARE European Reference Network, Rome, Italy., De Dominicis A; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Bova SM; Child Neurology Unit, Buzzi Children's Hospital, Milan, Italy., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genoa, Italy., Coppola A; Epilepsy Center, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University of Naples, Naples, Italy.

المصدر: Epilepsia [Epilepsia] 2024 Jul 02. Date of Electronic Publication: 2024 Jul 02.

نوع المنشور: Journal Article

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

المؤلفون: Cetica V; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Pisano T; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Lesca G; Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), Physiopathologie et Génétique du Neurone et du Muscle, Institut NeuroMyoGène, Lyon, France.; Department of Genetics, University Hospitals of Lyon, Hospices Civils de Lyon, Lyon, France., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Licchetta L; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy., Riccardi F; Aix-Marseille University, Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille Medical Genetics, Marseille, France.; Centre Hospitalier Intercommunal Toulon - La Seyne sur Mer (CHITS), Hôpital Ste Musse, Service de Génétique Médicale, Toulon, France., Mei D; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Chung HB; Department of Paediatrics and Adolescent Medicine, School of Clinical Medicine, Li Ka Shing (LKS) Faculty of Medicine, University of Hong Kong, Hong Kong, China., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Balasubramanian M; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.; Sheffield Clinical Genetics Service, Sheffield Children's National Health Service (NHS) Foundation Trust, Sheffield, UK., Lowenstein DH; Department of Neurology, University of California, San Francisco, California, USA., Endzinienė M; Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania., Alotaibi M; King Saud Medical City, Riyadh, Saudi Arabia., Villeneuve N; Depatment of Pediatric Neurology, Assistance Publique-Hopitaux de Marseille (AP-HM), Hôpital de la Timone Enfants, Marseille, France., Jacobs J; Alberta Children's Research Institute, Hodgekiss Brain Institute, Cumming School of Medicine, University of Calgary, Alberta, Canada., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.; Université de Nantes, Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM), l'Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France., Solazzi R; Department of Pediatric Neuroscience, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., den Hollander NS; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Marjanovic D; Holbæk Hospital Medical Department, Holbæk, Denmark., Rougeot-Jung C; Department of Pediatric Neurology, University Hospital of Lyon, Lyon, France., Jung J; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, University Paris Cité, Paris, France., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Saadi NW; College of Medicine, University of Baghdad, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq., Panagiotakaki E; Department of Functional Neurology and Epileptology, Hospices Civils de Lyon, Université de Lyon, Lyon, France., Foiadelli T; Clinica Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo, Pavia, Italy.; Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy., Redon S; Service de Génétique Médicale, Centre Hospitalier et Universitaire de Brest, Brest, France.; Université de Brest, Institut National de la Santé et de la Recherche Médicale (INSERM), Etablissement Français du Sang, UMR 1078, Brest, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Brest, France., Tsai MH; Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.; School of Medicine, Chang Gung University, Kaohsiung, Taiwan., Bisulli F; Istituto di Ricovero e Cura a Carattere Scientifico IRCCS, Istituto delle Scienze Neurologiche di Bologna, full member of the European Reference Network EpiCARE, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Parrini E; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy., Guerrini R; Neuroscience Department, Meyer Children's Hospital IRCCS, Florence, Italy.; University of Florence, Florence, Italy.

مؤلفون مشاركون: YWHAG Study Group

المصدر: Epilepsia [Epilepsia] 2024 May; Vol. 65 (5), pp. 1439-1450. Date of Electronic Publication: 2024 Mar 16.

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: Epilepsy*/diagnostic imaging , Epilepsy*/genetics , Epilepsy*/pathology, Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Young Adult ; Cohort Studies ; Developmental Disabilities/genetics ; Electroencephalography ; Genetic Association Studies ; Intellectual Disability/genetics ; Magnetic Resonance Imaging ; Phenotype

المؤلفون: Pisan E; Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, Coppito 67100, L'Aquila, Italy.; Human Functional Genomics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome 00163, Italy., Sanchez Russo R; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104., Bhoj E; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104., Wenger T; Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105., Marwaha A; Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada., Johnson N; Alberta Children's Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada., Beneteau C; Service de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France., Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway., Paulsen J; Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark., Ek J; Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark., Schweitzer D; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Russell BE; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Dutra-Clarke M; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Nelson S; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Douine ED; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Corona RI; Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095., Dudding T; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Thomson H; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Low K; Department of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom., Belnap N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012., Iascone M; Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy., Priolo M; Unit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy., Carli D; Department of Medical Sciences, University of Torino, Torino 10124, Italy.; Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy., Mussa A; Pediatric Clinical Genetics Unit, Ospedale Infantile Regina Margherita, Department of Public Health and Pediatric Sciences, University of Torino, Torino 10126, Italy., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands., Kopp N; Department of Pathology, Medical College of Wisconsin, Milwaukee, WI 53223., Jais JP; Biostatistics Unit, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France., Amiel J; Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France., Gordon CT; Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Mar 19; Vol. 121 (12), pp. e2317601121. Date of Electronic Publication: 2024 Mar 11.

نوع المنشور: Letter

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Abnormalities, Multiple*/genetics , Heart Defects, Congenital*, Humans ; Phenotype ; Tumor Necrosis Factor Receptor-Associated Peptides and Proteins

المؤلفون: Lildballe DL; Department Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Frederiksen AL; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Schönewolf-Greulich B; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Lautrup CK; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark., Karstensen HG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark., Pedersen IS; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark., Sunde L; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Risom L; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rasmussen M; Department of Clinical Genetics, Lillebaelt Hospital, University Hospital of Southern Denmark, Vejle, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense M, Denmark., Bertelsen M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Andersen MK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Rendtorff ND; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Gregersen PA; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hammer-Hansen S; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Boonen SE; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark; Department of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Lindquist SG; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark; Neurogenetics Clinic and Research Lab, Danish Dementia Research Centre, Department of Neurology, Copenhagen University Hospital Rigshospitalet, Denmark., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Epilepsy Genetics and Personalized Medicine. Danish Epilepsy Centre, Filadelfia, Dianalund, Denmark., Diness BR; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark. Electronic address: Birgitte.rode.diness@regionh.dk.

المصدر: European journal of medical genetics [Eur J Med Genet] 2023 Dec; Vol. 66 (12), pp. 104872. Date of Electronic Publication: 2023 Nov 13.

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: Viverridae* , Gene Regulatory Networks*, Humans ; Animals ; Health Personnel ; Denmark ; Genetic Counseling

المؤلفون: Mejdahl Nielsen M; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: malene.mejdahl.nielsen.01@regionh.dk., Petersen ET; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Section for Magnetic Resonance, Department of Health Technology, Technical University of Denmark, Kgs. Lyngby, Denmark., Fenger CD; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark; Amplexa Genetics, Odense, Denmark., Ørngreen MC; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark., Siebner HR; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark; Department of Neurology, Copenhagen University Hospital Bispebjerg and Frederiksberg, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Boer VO; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark., Považan M; Danish Research Centre for Magnetic Resonance, Centre for Functional and Diagnostic Imaging and Research, Copenhagen University Hospital Amager and Hvidovre, Hvidovre, Denmark., Lund A; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark., Grønborg SW; Center for Inherited Metabolic Diseases, Departments of Pediatrics and Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN) - Project ID No 739543, Denmark., Hammer TB; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Denmark.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2023 Nov; Vol. 140 (3), pp. 107694. Date of Electronic Publication: 2023 Aug 30.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Brain Diseases, Metabolic, Inborn*/diagnosis , Brain Diseases, Metabolic, Inborn*/genetics , Brain Diseases, Metabolic, Inborn*/drug therapy , Mental Retardation, X-Linked*/diagnosis , Mental Retardation, X-Linked*/genetics, Male ; Humans ; Female ; Creatine ; Plasma Membrane Neurotransmitter Transport Proteins/genetics ; Nerve Tissue Proteins

SCR Disease Name: Creatine deficiency, X-linked

المؤلفون: Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France., Michelucci R; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Christensen HM; Department of Neurology, Rigshospitalet, Copenhagen, Denmark., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark., Reale C; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Child Neuropsychiatry Unit, Department of Surgical Sciences, Dentistry, Gynecology, and Pediatrics, University of Verona, Verona, Italy., Riguzzi P; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Pasini E; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neurology, Bellaria Hospital, Bologna, Italy., Albini-Riccioli L; IRCCS-Istituto delle Scienze Neurologiche di Bologna, Unit of Neuroradiology, Bellaria Hospital, Bologna, Italy., Papa V; DIBINEM, University of Bologna, Bologna, Italy., Foschini MP; Unit of Pathological Anatomy, University of Bologna, Bellaria Hospital, Bologna, Italy., Cenacchi G; DIBINEM, University of Bologna, Bologna, Italy.; Unit of Pathological Anatomy, IRCCS Azienda Ospedaliera Universitaria S.Orsola-Malpighi, Bologna, Italy., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Marjanovic D; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark., Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Genetics, Rigshospitalet, Copenhagen, Denmark., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; European Reference Network for Rare and Complex epilepsies (ERN) EpiCARE, University Hospitals of Lyon, Lyon, France.; Department of Neurology, Danish Epilepsy Center, Dianalund, Denmark.; University of Copenhagen, Copenhagen, Denmark.

المصدر: Epilepsia [Epilepsia] 2023 Aug; Vol. 64 (8), pp. e170-e176. Date of Electronic Publication: 2023 Jun 08.

نوع المنشور: Journal Article

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: Myoclonic Epilepsies, Progressive*/genetics , Epilepsies, Myoclonic*/pathology , Epilepsy* , Myoclonus*, Humans ; Child ; Mutation ; Family ; Carrier Proteins/genetics ; Nuclear Proteins/genetics

المؤلفون: Omelková M; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Fenger CD; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark.; Amplexa Genetics A/S, Odense 5000, Denmark., Murray M; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Hammer TB; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark., Pravata VM; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Bartual SG; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Czajewski I; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Bayat A; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark., Ferenbach AT; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Stavridis MP; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., van Aalten DMF; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha 410008, China.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark.

المصدر: Disease models & mechanisms [Dis Model Mech] 2023 Jun 01; Vol. 16 (6). Date of Electronic Publication: 2023 Jun 19.

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

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/metabolism, Animals ; Mice ; Cell Self Renewal ; Glycosylation ; N-Acetylglucosaminyltransferases/genetics ; N-Acetylglucosaminyltransferases/metabolism