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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Markus, Fenja; Angelini, Chloé; Trimouille, Aurelien; Rudolf, Gabrielle; Lesca, Gaetan; Goizet, Cyril; Lasseaux, Eulalie; Arveiler, Benoit; van Slegtenhorst, Marjon; Brooks, Alice S; Abou Jamra, Rami; Korenke, Georg-Christoph; Neidhardt, John; Owczarek-Lipska, Marta.
Afiliação
  • Markus F; Junior Research Group, Genetics of Childhood Brain Malformations, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
  • Angelini C; Human Genetics, Faculty VI-School of Medicine and Health Sciences, University of Oldenburg, Oldenburg, Germany.
  • Trimouille A; Service de Génétique médicale, CHU de Bordeaux, Bordeaux, France.
  • Rudolf G; Service de Génétique médicale, CHU de Bordeaux, Bordeaux, France.
  • Lesca G; CNRS U7104, INSERM U1258, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
  • Goizet C; Service de Neurologie, Centre de Références des Maladies Neurogénétique Rares, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
  • Lasseaux E; Genetics department, Lyon University Hospital and University of Lyon, Lyon, France.
  • Arveiler B; Service de Génétique médicale, CHU de Bordeaux, Bordeaux, France.
  • van Slegtenhorst M; CNRS U7104, INSERM U1258, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
  • Brooks AS; Service de Génétique médicale, CHU de Bordeaux, Bordeaux, France.
  • Abou Jamra R; Service de Génétique médicale, CHU de Bordeaux, Bordeaux, France.
  • Korenke GC; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Neidhardt J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Owczarek-Lipska M; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
Mol Genet Genomic Med ; 8(9): e1388, 2020 09.
Article em En | MEDLINE | ID: mdl-32588540
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Receptores de GABA-A / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Receptores de GABA-A / Epilepsia Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article