Epi4K: Gene discovery in 4,000 genomes

被引：64

作者：

Berkovic, Sam

Cossette, Patrick ^{[2
]}

Delanty, Norman ^{[3
]}

Dlugos, Dennis ^{[4
]}

Eichler, Evan ^{[5
]}

Epstein, Michael ^{[6
]}

Glauser, Tracy ^{[7
]}

Goldstein, David ^{[8
]}

Heinzen, Erin ^{[8
]}

Johnson, Michael R. ^{[9
]}

Kuzniecky, Ruben ^{[10
]}

Lowenstein, Daniel ^{[11
]}

Marson, Tony ^{[12
]}

Mefford, Heather ^{[5
]}

O'Brien, Terence

Ottman, Ruth ^{[13
]}

Poduri, Ann ^{[14
]}

Scheffer, Ingrid ^{[1
]}

Sherr, Elliott ^{[11
]}

Shianna, Kevin ^{[8
]}

机构：

[1] Univ Melbourne, Florey Neurosci Inst, Melbourne, Vic 3010, Australia

[2] Univ Montreal, Montreal, PQ H3C 3J7, Canada

[3] Royal Coll Surgeons Ireland, Dublin 2, Ireland

[4] Childrens Hosp Philadelphia, Philadelphia, PA USA

[5] Univ Washington, Seattle, WA 98195 USA

[6] Emory Univ, Atlanta, GA 30322 USA

[7] Cincinnati Childrens Hosp, Med Ctr, Cincinnati, OH USA

[8] Duke Univ, Durham, NC 27706 USA

[9] Imperial Coll, London, England

[10] NYU, New York, NY 10003 USA

[11] Univ Calif San Francisco, San Francisco, CA 94143 USA

[12] Univ Liverpool, Liverpool L69 3BX, Merseyside, England

[13] Columbia Univ, New York, NY 10027 USA

[14] Childrens Hosp, Boston, MA 02115 USA

来源：

EPILEPSIA | 2012年 / 53卷 / 08期

关键词：

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;

D O I：

10.1111/j.1528-1167.2012.03511.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1457 / 1467

页数：11

共 100 条

[1] APPLICATIONS OF NEXT-GENERATION SEQUENCING Genome structural variation discovery and genotyping [J].