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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe, Johannes; Sticht, Heinrich; Lecoquierre, François; Goldenberg, Alice; Gorman, Kathleen M; Molloy, Ben; Agolini, Emanuele; Novelli, Antonio; Briuglia, Silvana; Kuismin, Outi; Marcelis, Carlo; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Julia, Sophie; Lemke, Johannes R; Abou Jamra, Rami; Platzer, Konrad.
Affiliation
  • Luppe J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
  • Goldenberg A; Department of Genetics and Reference Center for Developmental Disorders, Normandie Univ, UNIROUEN, CHU Rouen, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.
  • Gorman KM; Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
  • Molloy B; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.
  • Agolini E; Genuity Science, Dublin, Ireland.
  • Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
  • Briuglia S; Laboratory of Medical Genetics, Bambino Gesù Children Hospital IRCCS, Rome, Italy.
  • Kuismin O; Department of Biomedical, Dental, Morphological and Functional Imaging Sciences, University of Messina, Messina, Italy.
  • Marcelis C; Institute for Molecular Medicine Finland, Helsinki, Finland.
  • Vitobello A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
  • Denommé-Pichon AS; Inserm UMR1231 GAD, University of Burgundy-Franche Comté, Dijon, France.
  • Julia S; Inserm UMR1231 GAD, University of Burgundy-Franche Comté, Dijon, France.
  • Lemke JR; Federative Institute of Biology, CHU de Toulouse, Toulouse, France.
  • Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  • Platzer K; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
Eur J Hum Genet ; 31(3): 345-352, 2023 03.
Article in En | MEDLINE | ID: mdl-36564538
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Epilepsy / Neurodevelopmental Disorders / Intellectual Disability Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Alemania Country of publication: Reino Unido