Copy number variation plays an important role in clinical epilepsy-Reference-Cited by-同舟云学术

Copy number variation plays an important role in clinical epilepsy

Published:2014-06 Issue:6 Volume:75 Page:943-958
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Olson Heather¹,Shen Yiping²³⁴,Avallone Jennifer⁵,Sheidley Beth R.¹,Pinsky Rebecca¹,Bergin Ann M.⁵,Berry Gerard T.⁶,Duffy Frank H.⁵,Eksioglu Yaman⁵,Harris David J.⁶,Hisama Fuki M.⁶⁷,Ho Eugenia⁸⁹,Irons Mira⁶,Jacobsen Christina M.⁶¹⁰,James Philip⁶,Kothare Sanjeev⁵¹¹,Khwaja Omar⁸,Lipton Jonathan⁸,Loddenkemper Tobias⁵,Markowitz Jennifer⁸,Maski Kiran⁸,Megerian J. Thomas⁸,Neilan Edward⁶,Raffalli Peter C.⁸,Robbins Michael⁸,Roberts Amy⁶¹²,Roe Eugene⁸,Rollins Caitlin⁸,Sahin Mustafa⁸,Sarco Dean⁵,Schonwald Alison¹³,Smith Sharon E.⁶,Soul Janet⁸,Stoler Joan M.⁶,Takeoka Masanori⁵,Tan Wen-Han⁶,Torres Alcy R.⁸¹³,Tsai Peter⁸,Urion David K.⁸,Weissman Laura¹⁴,Wolff Robert⁸,Wu Bai-Lin²³⁴,Miller David T.⁴⁶,Poduri Annapurna¹

Affiliation:

1. Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology and Neurogenetics Program, Department of Neurology; Boston Children's Hospital, and Harvard Medical School; Boston MA

2. Department of Laboratory Medicine; Boston Children's Hospital; Boston MA

3. Department of Pathology; Harvard Medical School; Boston MA

4. Claritas Genomics Inc; Cambridge MA

5. Division of Epilepsy and Clinical Neurophysiology, Department of Neurology; Boston Children's Hospital and Harvard Medical School; Boston MA

6. Division of Genetics and Genomics; Boston Children's Hospital and Harvard Medical School; Boston MA

7. Division of Medical Genetics, Department of Medicine; University of Washington; Seattle WA

8. Department of Neurology; Boston Children's Hospital; Harvard Medical School; Boston MA

9. Departments of Neurology and Pediatrics; Children's Hospital Los Angeles, University of Southern California Keck School of Medicine; Los Angeles CA

10. Division of Endocrinology; Boston Children's Hospital and Harvard Medical School; Boston MA

11. Department of Neurology; New York University; New York NY

12. Department of Cardiology; Boston Children's Hospital and Harvard Medical School; Boston MA

13. Departments of Pediatrics and Neurology; Boston University, Boston Medical Center; Boston MA, USA

14. Division of Developmental Medicine; Boston Children's Hospital and Harvard Medical School; Boston MA

Funder

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ana.24178/fullpdf

Reference56 articles.

1. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies;Kovel;Brain,2010

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

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

4. Copy number variants are frequent in genetic generalized epilepsy with intellectual disability;Mullen;Neurology,2013

5. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures;Heron;J Med Genet,2007

Cited by 137 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. The role of copy number variants in the genetic architecture of common familial epilepsies;Epilepsia;2024-01-20

2. Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome;International Journal of Molecular Sciences;2023-12-23

3. Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders;2023-12-07

4. Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs;2023-09-05

5. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals;Nature Communications;2023-07-20