Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Author:

Mirzaa Ghayda M.1,Campbell Catarina D.2,Solovieff Nadia2,Goold Carleton P.2,Jansen Laura A.3,Menon Suchithra2,Timms Andrew E.4,Conti Valerio5,Biag Jonathan D.2,Olds Carissa6,Boyle Evan August7,Collins Sarah6,Ishak Gisele8,Poliachik Sandra L.8,Girisha Katta M.9,Yeung Kit-San10,Chung Brian Hon Yin10,Rahikkala Elisa11,Gunter Sonya A.3,McDaniel Sharon S.12,Macmurdo Colleen Forsyth13,Bernstein Jonathan A.13,Martin Beth14,Leary Rebecca J.2,Mahan Scott2,Liu Shanming2,Weaver Molly15,Dorschner Michael O.15,Jhangiani Shalini16,Muzny Donna M.16,Boerwinkle Eric17,Gibbs Richard A.16,Lupski James R.18,Shendure Jay14,Saneto Russell P.19,Novotny Edward J.20,Wilson Christopher J.21,Sellers William R.2,Morrissey Michael P.2,Hevner Robert F.22,Ojemann Jeffrey G.23,Guerrini Renzo24,Murphy Leon O.2,Winckler Wendy2,Dobyns William B.1

Affiliation:

1. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle2Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington

2. Novartis Institutes for BioMedical Research Inc, Cambridge, Massachusetts

3. Department of Neurology, University of Virginia, Charlottesville

4. Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington

5. Paediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, Florence, Italy7Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy

6. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington

7. Department of Genetics, Stanford University School of Medicine, Stanford, California

8. Department of Radiology, Seattle Children's Hospital, Seattle, Washington

9. Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India

10. Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China

11. PEDEGO Research Group and Medical Research Center Oulu, University of Oulu, Oulu, Finland13Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland

12. Pediatric Neurology and Epilepsy, Kaiser Permanente San Francisco Medical Center, San Francisco, California

13. Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, California

14. Department of Genome Sciences, University of Washington, Seattle

15. Department of Pathology, University of Washington, Seattle

16. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas19Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas

17. Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas20Human Genetics Center, University of Texas Health Science Center at Houston, Houston

18. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas19Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas21Department of Pediatrics, Baylor College of Medicine, Houston, Texas22Department of Pediatr

19. Division of Neurology, Pediatrics, and Radiology, University of Washington, Seattle24Center for Developmental Therapeutics, Seattle Children's Research Institute, Seattle, Washington

20. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington23Division of Neurology, Pediatrics, and Radiology, University of Washington, Seattle

21. Editas Medicine, Cambridge, Massachusetts

22. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington26Department of Neurological Surgery, University of Washington, Seattle

23. Department of Neurological Surgery, University of Washington, Seattle

24. Paediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, A. Meyer Children’s Hospital, Florence, Italy7Department of Neuroscience, Pharmacology and Child Health, University of Florence, Florence, Italy27IRCCS Stella Maris Foundation, P

Publisher

American Medical Association (AMA)

Subject

Clinical Neurology

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