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De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
Hansen, Jeanne; Snow, Chelsi; Tuttle, Emily; Ghoneim, Dalia H; Yang, Chun-Song; Spencer, Adam; Gunter, Sonya A; Smyser, Christopher D; Gurnett, Christina A; Shinawi, Marwan; Dobyns, William B; Wheless, James; Halterman, Marc W; Jansen, Laura A; Paschal, Bryce M; Paciorkowski, Alex R.
Afiliação
  • Hansen J; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Snow C; Center for Cell Signaling, University of Virginia, Charlottesville, VA 22908, USA.
  • Tuttle E; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Ghoneim DH; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Yang CS; Center for Cell Signaling, University of Virginia, Charlottesville, VA 22908, USA.
  • Spencer A; Center for Cell Signaling, University of Virginia, Charlottesville, VA 22908, USA.
  • Gunter SA; Department of Neurology, University of Virginia, Charlottesville, VA 22908, USA.
  • Smyser CD; Department of Neurology, Washington University, St. Louis, MO 63110, USA.
  • Gurnett CA; Department of Neurology, Washington University, St. Louis, MO 63110, USA.
  • Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University, St. Louis, MO 63110, USA.
  • Dobyns WB; Department of Neurology and Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Research Institute, Seattle, WA 98105, USA.
  • Wheless J; LeBonheur Children's Hospital and the University of Tennessee, Memphis, TN 38103, USA.
  • Halterman MW; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA.
  • Jansen LA; Department of Neurology, University of Virginia, Charlottesville, VA 22908, USA.
  • Paschal BM; Center for Cell Signaling, University of Virginia, Charlottesville, VA 22908, USA; Departments of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA 22908, USA.
  • Paciorkowski AR; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, NY 14642, USA; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14642, USA; Departments of Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester
Am J Hum Genet ; 96(4): 682-90, 2015 Apr 02.
Article em En | MEDLINE | ID: mdl-25839329
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Espasmos Infantis / Proteínas Serina-Treonina Quinases Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Espasmos Infantis / Proteínas Serina-Treonina Quinases Tipo de estudo: Prognostic_studies Limite: Child / Humans / Infant / Newborn Idioma: En Revista: Am J Hum Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos