Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy-Reference-Cited by-同舟云学术

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

Published:2012-08 Issue:2 Volume:91 Page:293-302
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Heinzen Erin L.,Depondt Chantal,Cavalleri Gianpiero L.,Ruzzo Elizabeth K.,Walley Nicole M.,Need Anna C.,Ge Dongliang,He Min,Cirulli Elizabeth T.,Zhao Qian,Cronin Kenneth D.,Gumbs Curtis E.,Campbell C. Ryan,Hong Linda K.,Maia Jessica M.,Shianna Kevin V.,McCormack Mark,Radtke Rodney A.,O'Conner Gerard D.,Mikati Mohamad A.,Gallentine William B.,Husain Aatif M.,Sinha Saurabh R.,Chinthapalli Krishna,Puranam Ram S.,McNamara James O.,Ottman Ruth,Sisodiya Sanjay M.,Delanty Norman,Goldstein David B.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. Whole genome association studies in complex diseases: Where do we stand?;Need;Dialogues Clin. Neurosci.,2010

2. Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities;Aldinger;Clin. Genet.,2009

3. Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes;Heinzen;Am. J. Hum. Genet.,2010

4. Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies;Mefford;PLoS Genet.,2010

5. Large recurrent microdeletions associated with schizophrenia;Stefansson;Nature,2008

Cited by 90 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. Importance of Genetic Testing in Children With Generalized Epilepsy;Cureus;2024-05-09

2. Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy;Neurogenetics;2024-03-09

3. The Brd2 mouse model of juvenile myoclonic epilepsy (JME);Handbook of Animal Models in Neurological Disorders;2023

4. Gene therapy in epilepsy;Biomedicine & Pharmacotherapy;2021-11

5. New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies;Epilepsy & Behavior;2021-08