Your browser doesn't support javascript.
loading
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Pirozzi, Filomena; Berkseth, Matthew; Shear, Rylee; Gonzalez, Lorenzo; Timms, Andrew E; Sulc, Josef; Pao, Emily; Oyama, Nora; Forzano, Francesca; Conti, Valerio; Guerrini, Renzo; Doherty, Emily S; Saitta, Sulagna C; Lockwood, Christina M; Pritchard, Colin C; Dobyns, William B; Novotny, Edward; Wright, Jason N N; Saneto, Russell P; Friedman, Seth; Hauptman, Jason; Ojemann, Jeffrey; Kapur, Raj P; Mirzaa, Ghayda M.
Afiliación
  • Pirozzi F; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Berkseth M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Shear R; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Gonzalez L; Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Timms AE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Sulc J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Pao E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Oyama N; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Forzano F; Department of Clinical Genetics, Guy's and St Thomas NHS Foundation Trust and King's College London, London, UK.
  • Conti V; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.
  • Doherty ES; Section of Clinical Genetics, Carilion Clinic Children's Hospital, Roanoke, VA, USA.
  • Saitta SC; Division of Medical Genetics, Department of Obstetrics and Gynecology, David Geffen School of Medicine at the University of California Los Angeles, Los Angeles, CA, USA.
  • Lockwood CM; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
  • Pritchard CC; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.
  • Dobyns WB; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
  • Novotny E; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.
  • Wright JNN; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
  • Saneto RP; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Friedman S; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.
  • Hauptman J; Department of Neurology, University of Washington, Seattle, WA, USA.
  • Ojemann J; Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA.
  • Kapur RP; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Mirzaa GM; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.
Brain ; 145(3): 925-938, 2022 04 29.
Article en En | MEDLINE | ID: mdl-35355055
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Malformaciones del Desarrollo Cortical / Hemimegalencefalia / Epilepsia Refractaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Epilepsia / Malformaciones del Desarrollo Cortical / Hemimegalencefalia / Epilepsia Refractaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Humans Idioma: En Año: 2022 Tipo del documento: Article