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GABRA1-Related Disorders: From Genetic to Functional Pathways.

Autor: 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.

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