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The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.
Larsen, Jan; Johannesen, Katrine Marie; Ek, Jakob; Tang, Shan; Marini, Carla; Blichfeldt, Susanne; Kibaek, Maria; von Spiczak, Sarah; Weckhuysen, Sarah; Frangu, Mimoza; Neubauer, Bernd Axel; Uldall, Peter; Striano, Pasquale; Zara, Federico; Kleiss, Rebecca; Simpson, Michael; Muhle, Hiltrud; Nikanorova, Marina; Jepsen, Birgit; Tommerup, Niels; Stephani, Ulrich; Guerrini, Renzo; Duno, Morten; Hjalgrim, Helle; Pal, Deb; Helbig, Ingo; Møller, Rikke Steensbjerre.
Afiliação
  • Larsen J; Danish Epilepsy Center, Dianalund, Denmark.
  • Johannesen KM; Danish Epilepsy Center, Dianalund, Denmark.
  • Ek J; Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Tang S; Department of Neuropediatrics, Herlev Hospital, Herlev, Denmark.
  • Marini C; Neurology Unit and Neurogenetic Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Blichfeldt S; Department of Neuropediatrics, Odense University Hospital Denmark, Odense, Denmark.
  • Kibaek M; Department of Neuropediatrics, Odense University Hospital Denmark, Odense, Denmark.
  • von Spiczak S; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
  • Weckhuysen S; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.
  • Frangu M; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Neubauer BA; INSERM U 1127, The National Scientific Research Center UMR7225, University of Pierre and Marie Curie (Paris 6) UMR 1127, The Brain and Spinal Institute, University of Sorbonne, Paris, France.
  • Uldall P; Department of Pediatrics, Holbaek Hospital, Holbaek, Denmark.
  • Striano P; Department of Neuropediatrics, University Medical Center Giessen and Marburg, Giessen, Germany.
  • Zara F; Pediatric Neurology Clinic, Rigshospitalet, Copenhagen, Denmark.
  • Kleiss R; Laboratory of Neurogenetics, Department of Neurosciences, Giannina Gaslini Institute, Genova, Italy.
  • Muhle H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
  • Nikanorova M; Department of Medical and Molecular Genetics, King's College London, Guy's Hospital, London, United Kingdom.
  • Jepsen B; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
  • Tommerup N; Danish Epilepsy Center, Dianalund, Denmark.
  • Stephani U; Institute for Regional Health Research, University of Southern Denmark, Odense, Denmark.
  • Guerrini R; Danish Epilepsy Center, Dianalund, Denmark.
  • Duno M; Department of Cellular and Molecular Medicine, Johannsen Center for Functional Genome Research, University of Copenhagen, Wilhelm Copenhagen, Denmark.
  • Hjalgrim H; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany.
  • Pal D; Neurology Unit and Neurogenetic Laboratories, Meyer Children's Hospital, Florence, Italy.
  • Helbig I; Department of Clinical Genetics, University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Møller RS; Danish Epilepsy Center, Dianalund, Denmark.
Epilepsia ; 56(12): e203-8, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26537434
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Epilepsia Tipo Ausência / Epilepsias Mioclônicas / Transportador de Glucose Tipo 1 Limite: Child, preschool / Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Epilepsia Ano de publicação: 2015 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 Assunto principal: Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Epilepsia Tipo Ausência / Epilepsias Mioclônicas / Transportador de Glucose Tipo 1 Limite: Child, preschool / Humans / Infant País/Região como assunto: Europa Idioma: En Revista: Epilepsia Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Dinamarca