Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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| Title: | Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care. |
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| Authors: | 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.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA., Pritchard CC; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA., Dobyns WB; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Novotny E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Wright JNN; Department of Radiology, Seattle Children's Hospital, Seattle, WA, USA., Saneto RP; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, Seattle, WA, USA., Friedman S; Center for Clinical and Translational Research, Seattle Children's Hospital, Seattle, WA, USA., Hauptman J; Department of Neurological Surgery, University of Washington, Seattle, WA, USA., Ojemann J; Department of Neurological Surgery, University of Washington, Seattle, WA, USA., Kapur RP; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, University of Minnesota, Seattle, WA, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, Seattle, WA, USA. |
| Source: | Brain : a journal of neurology [Brain] 2022 Apr 29; Vol. 145 (3), pp. 925-938. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2156 |
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| DOI: | 10.1093/brain/awab376 |
