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SCN1A overexpression, associated with a genomic region marked by a risk variant for a common epilepsy, raises seizure susceptibility.
Silvennoinen, Katri; Gawel, Kinga; Tsortouktzidis, Despina; Pitsch, Julika; Alhusaini, Saud; van Loo, Karen M J; Picardo, Richard; Michalak, Zuzanna; Pagni, Susanna; Martins Custodio, Helena; Mills, James; Whelan, Christopher D; de Zubicaray, Greig I; McMahon, Katie L; van der Ent, Wietske; Kirstein-Smardzewska, Karolina J; Tiraboschi, Ettore; Mudge, Jonathan M; Frankish, Adam; Thom, Maria; Wright, Margaret J; Thompson, Paul M; Schoch, Susanne; Becker, Albert J; Esguerra, Camila V; Sisodiya, Sanjay M.
Afiliação
  • Silvennoinen K; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.
  • Gawel K; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks, SL9 0RJ, UK.
  • Tsortouktzidis D; Chemical Neuroscience Group, Centre for Molecular Medicine Norway (NCMM), Faculty of Medicine, University of Oslo, 0349, Oslo, Norway.
  • Pitsch J; Department of Experimental and Clinical Pharmacology, Medical University of Lublin, 20-090, Lublin, Poland.
  • Alhusaini S; Institute of Neuropathology, Medical Faculty, University of Bonn, Section for Translational Epilepsy Research, 53127, Bonn, Germany.
  • van Loo KMJ; Department of Epileptology, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
  • Picardo R; Institute of Neuropathology, Medical Faculty, University of Bonn, Section for Translational Epilepsy Research, 53127, Bonn, Germany.
  • Michalak Z; Department of Epileptology, Medical Faculty, University of Bonn, 53127, Bonn, Germany.
  • Pagni S; Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin 2, Ireland.
  • Martins Custodio H; Department of Neurology, Yale University School of Medicine, New Haven, CT, 06520, USA.
  • Mills J; Institute of Neuropathology, Medical Faculty, University of Bonn, Section for Translational Epilepsy Research, 53127, Bonn, Germany.
  • Whelan CD; Department of Epileptology and Neurology, RWTH Aachen University, 52074, Aachen, Germany.
  • de Zubicaray GI; Department of Neuropathology, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • McMahon KL; Department of Neuropathology, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
  • van der Ent W; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.
  • Kirstein-Smardzewska KJ; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks, SL9 0RJ, UK.
  • Tiraboschi E; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.
  • Mudge JM; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks, SL9 0RJ, UK.
  • Frankish A; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Box 29, Queen Square, London, WC1N 3BG, UK.
  • Thom M; Chalfont Centre for Epilepsy, Chalfont St Peter, Bucks, SL9 0RJ, UK.
  • Wright MJ; Department of Molecular and Cellular Therapeutics, The Royal College of Surgeons in Ireland, Dublin 2, Ireland.
  • Thompson PM; Imaging Genetics Center, Mark and Mary Stevens Neuroimaging and Informatics Institute, Keck School of Medicine, University of Southern California, Marina del Rey, Los Angele, CA, 90292, USA.
  • Schoch S; School of Psychology, Faculty of Health, Queensland University of Technology (QUT), Brisbane, QLD, 4059, Australia.
  • Becker AJ; School of Clinical Sciences, Faculty of Health, Queensland University of Technology (QUT), Brisbane, QLD, 4029, Australia.
  • Esguerra CV; Chemical Neuroscience Group, Centre for Molecular Medicine Norway (NCMM), Faculty of Medicine, University of Oslo, 0349, Oslo, Norway.
  • Sisodiya SM; Chemical Neuroscience Group, Centre for Molecular Medicine Norway (NCMM), Faculty of Medicine, University of Oslo, 0349, Oslo, Norway.
Acta Neuropathol ; 144(1): 107-127, 2022 07.
Article em En | MEDLINE | ID: mdl-35551471
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Convulsões Febris / Proteínas de Peixe-Zebra / Epilepsia / Epilepsia do Lobo Temporal / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Convulsões Febris / Proteínas de Peixe-Zebra / Epilepsia / Epilepsia do Lobo Temporal / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Acta Neuropathol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido