Structural genomic variation in childhood epilepsies with complex phenotypes-Reference-Cited by-同舟云学术

Structural genomic variation in childhood epilepsies with complex phenotypes

Published:2013-11-27 Issue:7 Volume:22 Page:896-901
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Helbig Ingo,Swinkels Marielle E M,Aten Emmelien,Caliebe Almuth,van 't Slot Ruben,Boor Rainer,von Spiczak Sarah,Muhle Hiltrud,Jähn Johanna A,van Binsbergen Ellen,van Nieuwenhuizen Onno,Jansen Floor E,Braun Kees P J,de Haan Gerrit-Jan,Tommerup Niels,Stephani Ulrich,Hjalgrim Helle,Poot Martin,Lindhout Dick,Brilstra Eva H,Møller Rikke S,Koeleman Bobby PC

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013262.pdf

Reference21 articles.

1. Helbig I, Scheffer IE, Mulley JC, Berkovic SF : Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol 2008; 7: 231–245.

2. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989; 30: 389–399.

3. Berg AT, Berkovic SF, Brodie MJ et al: Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676–685.

4. Mefford HC, Muhle H, Ostertag P et al: Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 2010; 6: e1000962.

5. Heinzen EL, Radtke RA, Urban TJ et al: Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 2010; 86: 707–718.

Cited by 28 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing—A Multicenter Cohort Study;Pediatric Neurology;2024-10

2. The importance of routine genetic testing in pediatric epilepsy surgery;Epilepsia Open;2024-02-17

3. Diagnostic Yield of Epilepsy-Genes Sequencing and Chromosomal Microarray in Pediatric Epilepsy;Pediatric Neurology;2024-01

4. Facial dimension on three-dimensional computed tomography in patients with epilepsy: A preliminary study;Bangladesh Journal of Medical Science;2023-01-01

5. Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy;Science Progress;2022-10