Journal article
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
Bassel Abou-Khalil, Brian K Alldredge, Andrew S Allen, Eva Andermann, Frederick Andermann, Dina Amrom, Jocelyn F Bautista, Samuel F Berkovic, Alex Boro, Gregory Cascino, Bradley P Coe, Damian Consalvo, Joseph Cook, Patrick Cossette, Patricia Crumrine, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Evan E Eichler, Michael P Epstein Show all
ANNALS OF NEUROLOGY | WILEY | Published : 2015
DOI: 10.1002/ana.24457
Abstract
Infantile spasms (IS) and Lennox-Gastaut syndrome (LGS) are epileptic encephalopathies characterized by early onset, intractable seizures, and poor developmental outcomes. De novo sequence mutations and copy number variants (CNVs) are causative in a subset of cases. We used exome sequence data in 349 trios with IS or LGS to identify putative de novo CNVs. We confirm 18 de novo CNVs in 17 patients (4.8%), 10 of which are likely pathogenic, giving a firm genetic diagnosis for 2.9% of patients. Confirmation of exome-predicted CNVs by array-based methods is still required due to false-positive rates of prediction algorithms. Our exome-based results are consistent with recent array-based studies ..
View full abstractGrants
Awarded by NIH National Institute of Neurological Disorders and Stroke Center Without Walls
Awarded by Epilepsy Phenome/Genome Project
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Funding Acknowledgements
Funding for this study comes from the NIH National Institute of Neurological Disorders and Stroke Center Without Walls (U01NS077274, U01NS077276, U01NS077303, U01NS077364, U01NS077275) and Epilepsy Phenome/Genome Project (U01NS053998).