Academic Journal
Epi4K: Gene discovery in 4,000 genomes
| Title: | Epi4K: Gene discovery in 4,000 genomes |
|---|---|
| Authors: | Berkovic, S, Cossette, P, Delanty, N, Dlugos, D, Eichler, E, Epstein, M, Glauser, T, Goldstein, D, Heinzen, E, Johnson, MR, Kuzniecky, R, Lowenstein, D, Marson, T, Mefford, H, O'Brien, T, Ottman, R, Poduri, A, Scheffer, I, Sherr, E, Shianna, K |
| Source: | Epilepsia |
| Publisher Information: | Wiley, 2012. |
| Publication Year: | 2012 |
| Subject Terms: | INFANTILE SPASMS, SUSCEPTIBILITY LOCI, DNA Copy Number Variations, Clinical Neurology, 15Q13.3 MICRODELETIONS, Epileptic encephalopathies, 16P13.11 PREDISPOSE, 03 medical and health sciences, 0302 clinical medicine, RISK-FACTOR, Genetics, Sequencing, Humans, Genetic Predisposition to Disease, National Institute of Neurological Disorders and Stroke (U.S.), Special Report, Genetic Association Studies, COPY NUMBER VARIANTS, Epi4K Consortium, Genome, Science & Technology, Copy number variants, Neurology & Neurosurgery, Epilepsy, Genome, Human, FAMILY QUARTET, 1103 Clinical Sciences, Prognosis, United States, 3. Good health, ASSOCIATION ANALYSIS, Genes, Phenotyping, BRD2 RING3, National Institute of Neurological Disorders and Stroke, Neurosciences & Neurology, IDIOPATHIC GENERALIZED EPILEPSY, 1109 Neurosciences, Life Sciences & Biomedicine, Human |
| Description: | SummaryA 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. |
| Document Type: | Article Other literature type |
| Language: | English |
| ISSN: | 1528-1167 0013-9580 |
| DOI: | 10.1111/j.1528-1167.2012.03511.x |
| Access URL: | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1528-1167.2012.03511.x https://pubmed.ncbi.nlm.nih.gov/22642626 http://hdl.handle.net/10044/1/75840 |
| Rights: | Wiley Online Library User Agreement CC BY |
| Accession Number: | edsair.doi.dedup.....dfaf6623ead76e9ec7cda9e2de74929a |
| Database: | OpenAIRE |
| ISSN: | 15281167 00139580 |
|---|---|
| DOI: | 10.1111/j.1528-1167.2012.03511.x |