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GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto, Elisa; Liao, Vivian W Y; Johannesen, Katrine M; Fenger, Christina D; Lederer, Damien; Kothur, Kavitha; Fisk, Katrina; Bennetts, Bruce; Vrielynck, Pascal; Delaby, Delphine; Ceulemans, Berten; Weckhuysen, Sarah; Sparber, Peter; Bouman, Arjan; Ardern-Holmes, Simone; Troedson, Christopher; Battaglia, Domenica I; Goel, Himanshu; Feyma, Timothy; Bakhtiari, Somayeh; Tjoa, Linda; Boxill, Martin; Demina, Nina; Shchagina, Olga; Dadali, Elena; Kruer, Michael; Cantalupo, Gaetano; Contaldo, Ilaria; Polster, Tilman; Isidor, Bertrand; Bova, Stefania M; Fazeli, Walid; Wouters, Leen; Miranda, Maria J; Darra, Francesca; Pede, Elisa; Le Duc, Diana; Jamra, Rami Abou; Küry, Sébastien; Proietti, Jacopo; McSweeney, Niamh; Brokamp, Elly; Andrews, Peter Ian; Gouray Garcia, Marie; Chebib, Mary; Møller, Rikke S; Ahring, Philip K; Gardella, Elena.
Afiliação
  • Musto E; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Liao VWY; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.
  • Johannesen KM; Epilepsy and Movement Disorder Neurology, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.
  • Fenger CD; Brain and Mind Centre, School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Lederer D; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Kothur K; Department of Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Fisk K; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
  • Bennetts B; Amplexa Genetics, Odense, Denmark.
  • Vrielynck P; Center for Human Genetics, Institut de Pathologie et de Génétique, Gosselies, Belgium.
  • Delaby D; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
  • Ceulemans B; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Weckhuysen S; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Sparber P; Specialty of Genomic Medicine, Children's Hospital at Westmead Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Bouman A; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.
  • Ardern-Holmes S; Reference Center for Refractory Epilepsy, Catholic University of Louvain, William Lennox Neurological Hospital, Ottignies, Belgium.
  • Troedson C; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
  • Battaglia DI; Applied & Translational Neurogenomics Group, VIB-Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
  • Goel H; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
  • Feyma T; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.
  • Bakhtiari S; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.
  • Tjoa L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
  • Boxill M; Kids Neuroscience Centre, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.
  • Demina N; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Shchagina O; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Dadali E; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.
  • Kruer M; Hunter Genetics, Newcastle, New South Wales, Australia.
  • Cantalupo G; Gillette Children's Specialty Healthcare, Saint Paul, MN, USA.
  • Contaldo I; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Polster T; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Isidor B; Townsville University Hospital, Douglas, Queensland, Australia.
  • Bova SM; Department of Pediatrics, Viborg Regional Hospital, Viborg, Denmark.
  • Fazeli W; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.
  • Wouters L; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.
  • Miranda MJ; Research Center for Medical Genetics Moskvorechie 1, Moscow, Russia.
  • Darra F; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.
  • Pede E; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, USA.
  • Le Duc D; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.
  • Jamra RA; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.
  • Küry S; Center for Research on Epilepsies in Pediatric age (CREP), Verona, Italy.
  • Proietti J; Pediatric Neurology, Department of Woman and Child Health and Public Health, Child Health Area, Catholic University UCSC, Rome, Italy.
  • McSweeney N; Department of Epileptology (Krankenhaus Mara), Bielefeld University Medical School, Bielefeld, Germany.
  • Brokamp E; CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Andrews PI; Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy.
  • Gouray Garcia M; Department of Neuropediatrics, Children's Hospital, University of Bonn, Bonn, Germany.
  • Chebib M; Department of Pediatrics, Ziekenhuis Oost-Limburg, Genk, Belgium.
  • Møller RS; Department of Pediatrics, Pediatric Neurology, Herlev University Hospital, Copenhagen University, Herlev, Denmark.
  • Ahring PK; Child Neuropsychiatry Section, Department of Surgical Sciences, Dentistry, Gynecology and Paediatrics, University of Verona, Verona, Italy.
  • Gardella E; UOC Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Azienda Ospedaliero-Universitaria Integrata (full member of the ERN EpiCare), Verona, Italy.
Ann Neurol ; 2023 Aug 22.
Article em En | MEDLINE | ID: mdl-37606373
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Neurol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Ann Neurol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Dinamarca