Epi4K: gene discovery in 4,000 genomes.
File(s)Epi4K gene discovery in 4,000 genomes.pdf (292.93 KB)
Published version
Author(s)
The Epi4K Consortium
Type
Journal Article
Abstract
A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epilepsy, as well as the genetic determinants of response to treatment. To accelerate progress in this area, the National Institute of Neurological Disorders and Stroke (NINDS) recently offered funding for the creation of a “Center without Walls” to focus on the genetics of human epilepsy. This article describes Epi4K, the collaborative study supported through this grant mechanism and having the aim of analyzing the genomes of a minimum 4,000 subjects with highly selected and well‐characterized epilepsy.
Date Issued
2012-08
Date Acceptance
2012-03-22
Citation
Epilepsia, 2012, 53 (8), pp.1457-1467
ISSN
0013-9580
Publisher
Wiley
Start Page
1457
End Page
1467
Journal / Book Title
Epilepsia
Volume
53
Issue
8
Copyright Statement
© 2012 International League Against Epilepsy. Re‐use of this article is permitted in accordance with the Terms and Conditions set out at http://wileyonlinelibrary.com/onlineopen#OnlineOpen_Terms
Identifier
https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2012.03511.x
Subjects
Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences & Neurology
Epilepsy
Epileptic encephalopathies
Genetics
Phenotyping
Prognosis
Sequencing
Copy number variants
COPY NUMBER VARIANTS
IDIOPATHIC GENERALIZED EPILEPSY
INFANTILE SPASMS
15Q13.3 MICRODELETIONS
ASSOCIATION ANALYSIS
SUSCEPTIBILITY LOCI
16P13.11 PREDISPOSE
FAMILY QUARTET
RISK-FACTOR
BRD2 RING3
DNA Copy Number Variations
Epilepsy
Genes
Genetic Association Studies
Genetic Predisposition to Disease
Genome, Human
Humans
National Institute of Neurological Disorders and Stroke (U.S.)
Prognosis
United States
Epi4K Consortium
Humans
Epilepsy
Genetic Predisposition to Disease
Prognosis
Genes
Genome, Human
United States
National Institute of Neurological Disorders and Stroke
Genetic Association Studies
DNA Copy Number Variations
Neurology & Neurosurgery
1103 Clinical Sciences
1109 Neurosciences
Publication Status
Published
Date Publish Online
2012-05-29