Somatic Mutations in Cerebral Cortical Malformations

Author

JAMUAR, Saumya S^{1 4 5 9} ; LAM, Anh-Thu N^{1 4 5} ; SERVATTALAB, Sarah^{1 4 5} ; MEHTA, Bhaven K^{1 4 5} ; TOPCU, Meral¹² ; AMROM, Dina¹³ ; ANDERMANN, Eva^{13 14} ; DAN, Bernard¹⁵ ; PARRINI, Elena¹⁶ ; GUERRINI, Renzo¹⁶ ; SCHEFFER, Ingrid E^{17 18} ; BERKOVIC, Samuel F¹⁷ ; KIRCHER, Martin¹⁰ ; LEVENTER, Richard J¹⁹ ; YIPING SHEN^{11 2 20 6} ; BAI LIN WU^{2 20 6} ; BARKOVICH, A. James^{22 23} ; SAHIN, Mustafa^{3 5} ; CHANG, Bernard S⁷ ; BAMSHAD, Michael¹⁰ ; NICKERSON, Deborah A¹⁰ ; SHENDURE, Jay¹⁰ ; PODURI, Annapurna^{3 5} ; D'GAMA, Alissa M^{1 4 5} ; YU, Timothy W^{1 4 5 8} ; WALSH, Christopher A^{1 21 4 5} ; JIAN WANG² ; BARRY, Brenda J^{1 4 5} ; XIAOCHANG ZHANG^{1 4 5} ; HILL, Robert Sean^{1 4 5} ; PARTLOW, Jennifer N^{1 4 5} ; ROZZO, Aldo^{1 4 5}
[1] Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, United States
[2] Department of Laboratory Medicine, Boston Children's Hospital, Boston, United States
[3] Department of Neurology, Boston Children's Hospital, Boston, United States
[4] Department of Pediatrics, Harvard Medical School, Boston, United States
[5] Department of Neurology, Harvard Medical School, Boston, United States
[6] Department of Pathology, Harvard Medical School, Boston, United States
[7] Department of Neurology, Beth Israel Deaconess Medical Center, Boston, United States
[8] Department of Neurology, Massachusetts General Hospital, Boston, United States
[9] Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore
[10] Department of Genome Sciences, University of Washington, Seattle, United States
[11] Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai, China
[12] Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey
[13] Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, Canada
[14] Department of Human Genetics, McGill University, Montreal, Canada
[15] Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium
[16] Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy
[17] Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia
[18] Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia
[19] Department of Neurology, Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia
[20] Claritas Genomics, Cambridge, MA, United States
[21] Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, United States
[22] Department of Radiology and Biomedical Imaging, University of California, San Francisco (UCSF), San Francisco, United States
[23] UCSF Benioff Children's Hospital, San Francisco, United States

Source

The New England journal of medicine. 2014, Vol 371, Num 8, pp 733-743, 11 p ; ref : 27 ref

CODEN

NEJMAG

ISSN

0028-4793

Scientific domain

General medicine general surgery

Publisher

Massachusetts Medical Society, Waltham, MA

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Encéphale Malformation Mutation Médecine

Keyword (en)

Encephalon Malformation Mutation Medicine

Keyword (es)

Encéfalo Malformación Mutación Medicina

Classification

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B01 General aspects

Discipline

Generalities in medical sciences

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

28759471

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS