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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Jansen, Laura A; Mirzaa, Ghayda M; Ishak, Gisele E; O'Roak, Brian J; Hiatt, Joseph B; Roden, William H; Gunter, Sonya A; Christian, Susan L; Collins, Sarah; Adams, Carissa; Rivière, Jean-Baptiste; St-Onge, Judith; Ojemann, Jeffrey G; Shendure, Jay; Hevner, Robert F; Dobyns, William B.
Afiliación
  • Jansen LA; 1 University of Virginia, Neurology, Charlottesville, VA, USA 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA laura.jansen@virginia.edu.
  • Mirzaa GM; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 3 University of Washington, Paediatrics, Seattle, WA, USA.
  • Ishak GE; 4 Seattle Children's Hospital, Radiology, Seattle, WA, USA.
  • O'Roak BJ; 5 University of Washington, Genome Sciences, Seattle, WA, USA 6 Oregon Health and Science University, Molecular and Medical Genetics, Portland, OR, USA.
  • Hiatt JB; 5 University of Washington, Genome Sciences, Seattle, WA, USA.
  • Roden WH; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA.
  • Gunter SA; 1 University of Virginia, Neurology, Charlottesville, VA, USA.
  • Christian SL; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA.
  • Collins S; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA.
  • Adams C; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA.
  • Rivière JB; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 7 Université de Bourgogne, Equipe Génétique des Anomalies du Développement, Dijon, France.
  • St-Onge J; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 7 Université de Bourgogne, Equipe Génétique des Anomalies du Développement, Dijon, France.
  • Ojemann JG; 8 University of Washington, Neurosurgery, Seattle, WA, USA.
  • Shendure J; 5 University of Washington, Genome Sciences, Seattle, WA, USA.
  • Hevner RF; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 8 University of Washington, Neurosurgery, Seattle, WA, USA.
  • Dobyns WB; 2 Seattle Children's Research Institute, Centre for Integrative Brain Research, Seattle, WA, USA 3 University of Washington, Paediatrics, Seattle, WA, USA.
Brain ; 138(Pt 6): 1613-28, 2015 Jun.
Article en En | MEDLINE | ID: mdl-25722288

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Malformaciones del Desarrollo Cortical / Megalencefalia / Hemimegalencefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Transducción de Señal / Fosfatidilinositol 3-Quinasas / Proteínas Proto-Oncogénicas c-akt / Malformaciones del Desarrollo Cortical / Megalencefalia / Hemimegalencefalia Tipo de estudio: Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Brain Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido