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GABRA1-Related Disorders: From Genetic to Functional Pathways.

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Title: GABRA1-Related Disorders: From Genetic to Functional Pathways.
Authors: 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.
Source: Annals of neurology [Ann Neurol] 2023 Aug 22. Date of Electronic Publication: 2023 Aug 22.
Publication Type: Journal Article
Journal Info: 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
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  Data: GABRA1-Related Disorders: From Genetic to Functional Pathways.
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  Data: <searchLink fieldCode="AU" term="%22Musto+E%22">Musto E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Liao+VWY%22">Liao VWY</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Johannesen+KM%22">Johannesen KM</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Fenger+CD%22">Fenger CD</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Lederer+D%22">Lederer D</searchLink>; Center for Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Kothur+K%22">Kothur K</searchLink>; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Fisk+K%22">Fisk K</searchLink>; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bennetts+B%22">Bennetts B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Vrielynck+P%22">Vrielynck P</searchLink>; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.<br /><searchLink fieldCode="AU" term="%22Delaby+D%22">Delaby D</searchLink>; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.<br /><searchLink fieldCode="AU" term="%22Ceulemans+B%22">Ceulemans B</searchLink>; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Weckhuysen+S%22">Weckhuysen S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sparber+P%22">Sparber P</searchLink>; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bouman+A%22">Bouman A</searchLink>; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Ardern-Holmes+S%22">Ardern-Holmes S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Troedson+C%22">Troedson C</searchLink>; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Battaglia+DI%22">Battaglia DI</searchLink>; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Goel+H%22">Goel H</searchLink>; Hunter Genetics, Newcastle, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Feyma+T%22">Feyma T</searchLink>; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.<br /><searchLink fieldCode="AU" term="%22Bakhtiari+S%22">Bakhtiari S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tjoa+L%22">Tjoa L</searchLink>; Townsville University Hospital, Douglas, Queensland, Australia.<br /><searchLink fieldCode="AU" term="%22Boxill+M%22">Boxill M</searchLink>; Department of Pediatrics, Viborg Regional Hospital, Viborg, Denmark.<br /><searchLink fieldCode="AU" term="%22Demina+N%22">Demina N</searchLink>; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+O%22">Shchagina O</searchLink>; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dadali+E%22">Dadali E</searchLink>; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kruer+M%22">Kruer M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cantalupo+G%22">Cantalupo G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Contaldo+I%22">Contaldo I</searchLink>; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Polster+T%22">Polster T</searchLink>; Department of Epileptology (Krankenhaus Mara), Bielefeld University Medical School, Bielefeld, Germany.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; CHU Nantes, Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Bova+SM%22">Bova SM</searchLink>; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Fazeli+W%22">Fazeli W</searchLink>; Department of Neuropediatrics, Children's Hospital, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Wouters+L%22">Wouters L</searchLink>; Department of Pediatrics, Ziekenhuis Oost-Limburg, Genk, Belgium.<br /><searchLink fieldCode="AU" term="%22Miranda+MJ%22">Miranda MJ</searchLink>; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark.<br /><searchLink fieldCode="AU" term="%22Darra+F%22">Darra F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pede+E%22">Pede E</searchLink>; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Le+Duc+D%22">Le Duc D</searchLink>; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Department of Human Genetics, University of Leipzig Faculty of Medicine, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes, France.; l'Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Proietti+J%22">Proietti J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22McSweeney+N%22">McSweeney N</searchLink>; Department of Paediatrics, Cork University Hospital, Cork, Ireland.<br /><searchLink fieldCode="AU" term="%22Brokamp+E%22">Brokamp E</searchLink>; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Andrews+PI%22">Andrews PI</searchLink>; Department of Neurology, Sydney Children's Hospital, Randwick, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Gouray+Garcia+M%22">Gouray Garcia M</searchLink>; Centre Hospitalier de Cholet, Cholet, France.<br /><searchLink fieldCode="AU" term="%22Chebib+M%22">Chebib M</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Møller+RS%22">Møller RS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ahring+PK%22">Ahring PK</searchLink>; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Gardella+E%22">Gardella E</searchLink>; 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.
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              Value: 1531-8249
          Titles:
            – TitleFull: Annals of neurology
              Type: main
ResultId 1