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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.
Carvill, Gemma L; Engel, Krysta L; Ramamurthy, Aishwarya; Cochran, J Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L; Hollingsworth, Georgie; Holder, Dylan H; Regan, Brigid M; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E Martina; Nguyen, John; Barsh, Gregory S; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel F; De Jonghe, Peter; Scheffer, Ingrid E; Myers, Richard M; Cooper, Gregory M; Mefford, Heather C.
Afiliação
  • Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Engel KL; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Biochemistry and Molecular Genetics, Anschutz School of Medicine, University of Colorado Denver, Denver, CO 80204, USA.
  • Ramamurthy A; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60610, USA.
  • Cochran JN; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Roovers J; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
  • Stamberger H; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
  • Lim N; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Hollingsworth G; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Holder DH; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Regan BM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • Lawlor J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Lagae L; Department of Development and Regeneration - Section Pediatric Neurology, University Hospitals KU Leuven, Leuven 3000, Belgium.
  • Ceulemans B; Department of Pediatric Neurology, University and University Hospital Antwerp, Antwerp 2610, Belgium.
  • Bebin EM; University of Alabama at Birmingham, Birmingham, AL 35294, USA.
  • Nguyen J; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
  • Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Weckhuysen S; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
  • Meisler M; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.
  • De Jonghe P; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp 2610, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp 2610, Belgium; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium.
  • Scheffer IE; Department of Neurology, University Hospital Antwerp, Antwerp 2610, Belgium; University of Melbourne, Royal Children's Hospital, Murdoch Children's Research Institute, Florey Institute, Melbourne, VIC 3084, Australia.
  • Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
  • Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
  • Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address: hmefford@uw.edu.
Am J Hum Genet ; 103(6): 1022-1029, 2018 12 06.
Article em En | MEDLINE | ID: mdl-30526861
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Éxons / Epilepsias Mioclônicas / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Variação Genética / Éxons / Epilepsias Mioclônicas / Epilepsia / Canal de Sódio Disparado por Voltagem NAV1.1 Tipo de estudo: Etiology_studies / Risk_factors_studies Limite: Adult / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos