المؤلفون: An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra

المساهمون: Bonardi, Claudia M, Heyne, Henrike O, Fiannacca, Martina, Fitzgerald, Mark P, Dibbens, Leanne, Rubboli, Guido, Institut Pascal (IP), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne (UCA)-Institut national polytechnique Clermont Auvergne (INP Clermont Auvergne), Université Clermont Auvergne (UCA)-Université Clermont Auvergne (UCA), Bonardi, Cm, Heyne, Ho, Fiannacca, M, Fitzgerald, Mp, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, Mm, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, Mc, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, Cd, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, Da, Kroes, Hy, Reale, C, Fenger, Cd, Tan, Wh, Dibbens, L, Bearden, Dr, Møller, R, Rubboli, G.

المصدر: Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩

مصطلحات موضوعية: Male, Potassium Channels, Adolescent, Genotype, KCNT1, Nerve Tissue Proteins, Potassium Channels, Sodium-Activated, Bioinformatics, Temporal lobe, Cohort Studies, 03 medical and health sciences, Epilepsy, Young Adult, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, medicine, epileptic encephalopathies, Missense mutation, Humans, Preschool, Child, 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Seizure types, business.industry, developmental and epileptic encephalopathies, epilepsy of infancy with migrating focal seizures, sleep-related hypermotor epilepsy, Child, Preschool, Female, Infant, Mutation, Phenotype, West Syndrome, medicine.disease, 3. Good health, ddc:616.8, Epileptic spasms, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Sodium-Activated, Neurology (clinical), Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a5f969c528f80b314ded91f30e0ad4
https://pubmed.ncbi.nlm.nih.gov/36285205

المؤلفون: Ferretti A; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Furlan M; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Glinton KE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Amplexa Genetics A/S, Odense, Denmark., Boschann F; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany; Berlin Institute of Health, Charité - Universitätsmedizin Berlin, Berlin, Germany., Amlie-Wolf L; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Moretti R; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Stoltenburg C; Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Sozialpädiatrisches Zentrum Neuropädiatrie, Berlin, Germany., Tarquinio DC; Rett Syndrome Clinic, Center for Rare Neurological Diseases, Norcross, Georgia., Furia F; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark., Parisi P; Pediatrics Unit, Faculty of Medicine and Psychology, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Sapienza University of Rome, Rome, Italy., Rubboli G; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Member of ERN EpiCARE., Devinsky O; NYU Langone Epilepsy Center, Department of Neurology, NYU Grossman School of Medicine, New York City, New York., Mignot C; APHP-Sorbonne Université, Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Gripp KW; Division of Medical Genetics, Nemours Children's Health, Wilmington, Delaware., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE., Yang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas; AiLife Diagnostics, Pearland, Texas., Stankiewicz P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas., Gardella E; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark; Faculty of Health Sciences, Department of Regional Health Research, University of Southern Denmark, Odense, Denmark; Member of ERN EpiCARE. Electronic address: elga@filadelfia.dk.

المصدر: Pediatric neurology [Pediatr Neurol] 2024 Jun 11; Vol. 158, pp. 17-25. Date of Electronic Publication: 2024 Jun 11.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

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: Aledo-Serrano Á; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain. aaledo@synaptia.org.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain. aaledo@synaptia.org.; Neuroscience Institute, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain. aaledo@synaptia.org., Valls-Carbó A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Amplexa Genetics A/S (H.A.D.), Odense, Denmark., Groeppel G; Department of Paediatrics and Adolescent Medicine and Department of Neurology, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria., Hartlieb T; Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen Clinic, Vogtareuth, Germany.; Research Institute 'Rehabilitation, ' PMU Salzburg, Transition, PalliationSalzburg, Austria., Pascual I; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Herraez E; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurophysiology, Rey Juan Carlos University Hospital, Madrid, Spain., Cabal B; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurology, Puerta de Hierro University Hospital, Madrid, Spain., García-Morales I; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Clinico San Carlos University Hospital, Madrid, Spain., Toledano R; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Clinico San Carlos University Hospital, Madrid, Spain., Budke M; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Department of Neurosurgery, Niño Jesus University Hospital, Madrid, Spain., Beltran-Corbellini Á; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Baldassari S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France., Coras R; Department of Neuropathology, University Hospital, Erlangen, Germany., Kobow K; Department of Neuropathology, University Hospital, Erlangen, Germany., Herrera DM; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Epilepsy Unit, Department of Neurology, Kennedy University Hospital, Bogota, Colombia., Del Barrio A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain., Dahl HA; Amplexa Genetics A/S (H.A.D.), Odense, Denmark., Del Pino I; Institute of Neurosciences (IN), Higher Council for Scientific Research-Miguel Hernandez University, Alicante, Spain., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Paris, France., Blumcke I; Department of Neuropathology, University Hospital, Erlangen, Germany., Møller RS; Neuroscience Institute, Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Gil-Nagel A; Epilepsy and Neurogenetics Program, Ruber Internacional Hospital, La Masó 34, 28034, Madrid, Spain.; Initiative for Neuroscience (INCE) Foundation, Madrid, Spain.

المصدر: Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2023 Sep; Vol. 20 (5), pp. 1294-1304. Date of Electronic Publication: 2023 Jun 06.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Experimental NeuroTherapeutics 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: Galactose* , Epilepsy*/therapy, Humans ; Precision Medicine ; Hyperplasia ; Pilot Projects ; Quality of Life ; Seizures ; Electroencephalography/methods

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: Musto E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.; Epilepsy and Movement Disorder Neurology, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy., Liao VWY; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark., Fenger CD; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Lederer D; Center for Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium., Kothur K; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Fisk K; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Specialty of Genomic Medicine, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Vrielynck P; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Delaby D; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied & Translational Neurogenomics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium., Sparber P; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Ardern-Holmes S; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Troedson C; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia., Battaglia DI; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Goel H; Hunter Genetics, Newcastle, New South Wales, Australia., Feyma T; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Tjoa L; Townsville University Hospital, Douglas, Queensland, Australia., Boxill M; Department of Pediatrics, Viborg Regional Hospital, Viborg, Denmark., Demina N; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Shchagina O; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Dadali E; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA., Cantalupo G; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.; Center for Research on Epilepsies in Pediatric age (CREP), Verona, Italy., Contaldo I; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Polster T; Department of Epileptology (Krankenhaus Mara), Bielefeld University Medical School, Bielefeld, Germany., Isidor B; CHU Nantes, Service de Génétique Médicale, Nantes, France., Bova SM; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy., Fazeli W; Department of Neuropediatrics, Children's Hospital, University of Bonn, Bonn, Germany., Wouters L; Department of Pediatrics, Ziekenhuis Oost-Limburg, Genk, Belgium., Miranda MJ; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark., Darra F; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.; Center for Research on Epilepsies in Pediatric age (CREP), Verona, Italy., Pede E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy., Le Duc D; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany., Jamra RA; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany., Küry S; Service de Génétique Médicale, CHU Nantes, Nantes, France.; l'Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France., Proietti J; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.; Irish Centre for Fetal and Neonatal Translational Research, Child Neuropsychiatry, Cork, Ireland., McSweeney N; Department of Paediatrics, Cork University Hospital, Cork, Ireland., Brokamp E; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Andrews PI; Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia., Gouray Garcia M; Centre Hospitalier de Cholet, Cholet, France., Chebib M; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark., Ahring PK; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia., Gardella E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.

المصدر: Annals of neurology [Ann Neurol] 2023 Aug 22. Date of Electronic Publication: 2023 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

المؤلفون: Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark., Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Kattentidt-Mouravieva AA; Stichting Zuidwester, Middelharnis, Netherlands., Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain., Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

المصدر: Frontiers in neuroscience [Front Neurosci] 2023 Aug 11; Vol. 17, pp. 1270299. Date of Electronic Publication: 2023 Aug 11 (Print Publication: 2023).

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

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: Kassabian B; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Neurology Unit, Department of Neuroscience, University of Padua, Padua, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark., Willems M; Département Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Aledo-Serrano A; Epilepsy and Neurogenetics Program-Vithas Madrid La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain., Linnankivi T; Department of Pediatric Neurology, New Children's Hospital and Pediatric Research Center, Epilepsia Helsinki, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., McDonnell PP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Lusk L; Epilepsy Neurogenetics Initiative, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Jepsen BS; Pediatric Department, Danish Epilepsy Center, Dianalund, Denmark., Bayat M; Department of Neurology and Center for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark., Kattentidt A; Genetic Department, Stichting Zuidwester, Middelharnis, Netherlands., Vidal AA; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron and Medicine Genetics Group Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Valero-Lopez G; Neurology Department, Virgen de la Arrixaca University Hospital, Murcia, Spain., Alarcon-Martinez H; Department of Pediatric Neurology, Virgen de la Arrixaca University Hospital, Murcia, Spain., Goodspeed K; Department of Pediatrics, Division of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States.; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, United States., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, Odense, Denmark., Johannesen KM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

المصدر: Frontiers in neuroscience [Front Neurosci] 2023 Jul 12; Vol. 17, pp. 1219262. Date of Electronic Publication: 2023 Jul 12 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

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