Accepted for Publication: July 31, 2013.
Published Online: October 14, 2013. doi:10.1001/jamaneurol.2013.4598.
Study concept and design: Lupski, Gibbs.
Acquisition of data: Gonzaga-Jauregui, Lotze, Jamal, Penney, Woodbury, Raymond, Adesina, Jhangiani, Muzny, Boerwinkle, Lupski, Wiszniewski.
Analysis and interpretation of data: Gonzaga-Jauregui, Campbell, Pehlivan, Hunter, Reid, Wiszniewski.
Drafting of the manuscript: Gonzaga-Jauregui, Lupski, Wiszniewski.
Critical revision of the manuscript for important intellectual content: All authors.
Statistical analysis: Gonzaga-Jauregui, Campbell.
Obtained funding: Lupski, Gibbs.
Administrative, technical, or material support: Jhangiani.
Study supervision: Muzny, Lupski.
Conflict of Interest Disclosures: Dr Hunter receives royalties for a chapter on pediatric neuroimaging in UpToDate. Dr Boerwinkle received honoraria from The Foundation of Rome for a project review. Dr Lupski is a consultant for Athena Diagnostics, 23andMe, and Ion Torrent Systems, Inc and holds multiple US and European patents for DNA diagnostics. Dr Gibbs was an owner of SeqWright and is an advisor to GE Healthcare/Clarient and the Allen Institute for Brain Science. The Medical Genetics Laboratories (http://www.bcm.edu/geneticlabs/) and Whole Genome Laboratory (http://www.bcm.edu/geneticlabs/index.cfm?PMID=21319) of the Department of Molecular and Human Genetics at Baylor College of Medicine derive revenue from molecular diagnostic testing. No other disclosures were reported.
Funding/Support: This work was supported by grant U54HG006542 from the National Human Genome Research Institute to the Baylor-Hopkins Center for Mendelian Genomics and grant U54HG003273 from the National Human Genome Research Institute to the Human Genome Sequencing Center, Baylor College of Medicine. Dr Hunter is supported by grants R01 NS21889, R03 NS069943, P01 NS056202, and PTO 74693P2 from the National Institutes of Health and by the Simons Foundation. Dr Boerwinkle is supported by grants 5 RC2 HL 102419-02, 5 N01HC 55016-40-0-1, 5 U01 HG 004803-04, 5 R01 HL 072810-09, 1 R01 HL 106034-02, 5 U01 HL 096917-02, 2 U01 GM 074492-08, 2 U54 HG003273-09, and 1 U54 HG006542-01 from the National Institutes of Health. Dr Lupski is supported by grants R01NS058529 from the National Institute of Neurological Disorders and Stroke and U54HG006542 from the National Human Genome Research Institute. Dr Gibbs is supported by the National Human Genome Research Institute and the National Cancer Institute. Dr Wiszniewski is supported by Career Development Award K23NS078056 from the National Institute of Neurological Disorders and Stroke and grant 2012/06/NZ2 from the Ministry of Science and Higher Education of Poland.
Role of the Sponsor: The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; or preparation, review, or approval of the manuscript.
Additional Contributions: We thank the patients and families who participated in this study.