Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality.

Related collections

Author and article information

Journal

Journal ID (iso-abbrev): JAMA Neurol

Title: JAMA neurology

Publisher: American Medical Association (AMA)

ISSN (Electronic): 2168-6157

ISSN (Print): 2168-6149

Publication date (Electronic): Jul 01 2016

Volume: 73

Issue: 7

Affiliations

[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.

Article

Publisher Item ID: 2519874 Mid ID: NIHMS799075

DOI: 10.1001/jamaneurol.2016.0363

PMC ID: 4979321

PubMed ID: 27159400

SO-VID: 49aca73b-1ca2-48d2-b241-d7aaa082ee61

History

Data availability:

Comments

Comment on this article

scite_

Cited by 96

See all cited by

- Version 1