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Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Seiffert, Simone; Pendziwiat, Manuela; Bierhals, Tatjana; Goel, Himanshu; Schwarz, Niklas; van der Ven, Amelie; Boßelmann, Christian Malte; Lemke, Johannes; Syrbe, Steffen; Willemsen, Marjolein Hanna; Hedrich, Ulrike Barbara Stefanie; Helbig, Ingo; Weber, Yvonne.
Afiliação
  • Seiffert S; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Pendziwiat M; Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Goel H; Hunter Genetics, Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW, 2308, Australia.
  • Schwarz N; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • van der Ven A; Institute of Human Genetics, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.
  • Boßelmann CM; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Lemke J; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.
  • Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Willemsen MH; Department of Clinical Genetics, Maastricht University Medical Centre Maastricht, The Netherlands; Department of Human Genetics, Radboud University Medical Centre Nijmegen, The Netherlands & Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
  • Hedrich UBS; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
  • Helbig I; Department of Neuropediatrics, University Medical Centre Schleswig-Holstein, Christian-Albrechts-University, Kiel, Germany; Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel, Germany; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, USA; T
  • Weber Y; Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Department of Epileptology and Neurology, University of Aachen, Aachen, Germany. Electronic address: yweber@ukaachen.de.
EBioMedicine ; 83: 104234, 2022 Sep.
Article em En | MEDLINE | ID: mdl-36029553
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Canal de Sódio Disparado por Voltagem NAV1.2 / Canal de Sódio Disparado por Voltagem NAV1.6 / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Canal de Sódio Disparado por Voltagem NAV1.2 / Canal de Sódio Disparado por Voltagem NAV1.6 / Transtorno do Espectro Autista Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article