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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio, Helena; Clayton, Lisa M; Bellampalli, Ravishankara; Pagni, Susanna; Silvennoinen, Katri; Caswell, Richard; Brunklaus, Andreas; Guerrini, Renzo; Koeleman, Bobby P C; Lemke, Johannes R; Møller, Rikke S; Scheffer, Ingrid E; Weckhuysen, Sarah; Zara, Federico; Zuberi, Sameer; Kuchenbaecker, Karoline; Balestrini, Simona; Mills, James D; Sisodiya, Sanjay M.
Afiliação
  • Martins Custodio H; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.
  • Clayton LM; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
  • Bellampalli R; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.
  • Pagni S; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
  • Silvennoinen K; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.
  • Caswell R; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
  • Brunklaus A; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
  • Guerrini R; University College London Queen Square Institute of Neurology, Department of Clinical and Experimental Epilepsy, London, WC1N 3BG, UK.
  • Koeleman BPC; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
  • Lemke JR; Kuopio Epilepsy Center, Neurocenter, Kuopio University Hospital, Kuopio 70210, Finland.
  • Møller RS; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Weckhuysen S; Paediatric Neuroscience Research Group, Royal Hospital for Children, Glasgow G51 4TF, UK.
  • Zara F; Institute of Health and Wellbeing, University of Glasgow, Glasgow G12 8TB, UK.
  • Zuberi S; Neuroscience Department, Meyer Children's Hospital IRCSS, University of Florence, 50139 Florence, Italy.
  • Kuchenbaecker K; Department of Genetics, University Medical Centre Utrecht, 3584CX Utrecht, The Netherlands.
  • Balestrini S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Mills JD; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany.
  • Sisodiya SM; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, DK-4293 Dianalund, Denmark.
Brain ; 146(9): 3885-3897, 2023 09 01.
Article em En | MEDLINE | ID: mdl-37006128
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Epilepsia Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsias Mioclônicas / Epilepsia Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article