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Copy Number Matters in Epilepsy.癫痫中的拷贝数至关重要。
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[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].
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Copy number variations in Saudi family with intellectual disability and epilepsy.患有智力残疾和癫痫的沙特家庭中的拷贝数变异
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The epilepsy phenotype in adult patients with intellectual disability and pathogenic copy number variants.智力障碍成年患者伴致病性拷贝数变异的癫痫表型。
Seizure. 2017 Dec;53:86-93. doi: 10.1016/j.seizure.2017.11.009. Epub 2017 Nov 14.
7
Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.拷贝数变异与颞叶外侧癫痫易感性：一项对21个家系的研究
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[Reduction of gray and white matters in patients with temporal lobe epilepsy and its correlation with disease duration].[颞叶癫痫患者灰质和白质减少及其与病程的相关性]
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Progress from genome-wide association studies and copy number variant studies in epilepsy.癫痫全基因组关联研究和拷贝数变异研究的进展。
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Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis.利用拷贝数变异分析研究发热相关性癫痫综合征的遗传基础。
Epilepsia. 2015 Mar;56(3):e26-32. doi: 10.1111/epi.12920. Epub 2015 Feb 17.

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability.比较成年癫痫伴智力障碍和儿童癫痫伴智力障碍患者的基因组诊断。
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2
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.48个基因中的罕见变异占246例儿科患者癫痫病例的42%，这些患者伴有或不伴有神经发育迟缓。
Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019.
3
Next Generation Sequencing Methods for Diagnosis of Epilepsy Syndromes.用于癫痫综合征诊断的新一代测序方法
Front Genet. 2018 Feb 7;9:20. doi: 10.3389/fgene.2018.00020. eCollection 2018.
4
[Trends and expectations the research on the molecular background of epileptic encephalopathies - state of the art in 2017].[癫痫性脑病分子背景的研究趋势与期望——2017年的最新进展]
Dev Period Med. 2017;21(4):317-327. doi: 10.34763/devperiodmed.20172104.317327.
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Copy Number Variations in Amyotrophic Lateral Sclerosis: Piecing the Mosaic Tiles Together through a Systems Biology Approach.肌萎缩侧索硬化症中的拷贝数变异：通过系统生物学方法拼凑马赛克。
Mol Neurobiol. 2018 Feb;55(2):1299-1322. doi: 10.1007/s12035-017-0393-x. Epub 2017 Jan 24.

本文引用的文献

1
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.16号染色体短臂11.2区600千碱基重复增加典型和非典型罗兰多癫痫的发病风险。
Hum Mol Genet. 2014 Nov 15;23(22):6069-80. doi: 10.1093/hmg/ddu306. Epub 2014 Jun 16.
2
Copy number variation plays an important role in clinical epilepsy.拷贝数变异在临床癫痫中起着重要作用。
Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.
3
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.在 Rolandic 癫痫中检测到的一组基因组改变包含候选或已知的癫痫基因，包括 GRIN2A 和 PRRT2。
Epilepsia. 2014 Feb;55(2):370-8. doi: 10.1111/epi.12502. Epub 2013 Dec 24.
4
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.拷贝数变异在伴有智力障碍的遗传性全面性癫痫中很常见。
Neurology. 2013 Oct 22;81(17):1507-14. doi: 10.1212/WNL.0b013e3182a95829. Epub 2013 Sep 25.
5
Rare copy number variants are an important cause of epileptic encephalopathies.罕见的拷贝数变异是癫痫性脑病的一个重要病因。
Ann Neurol. 2011 Dec;70(6):974-85. doi: 10.1002/ana.22645.
6
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.15q11.2 和 16p13.11 频发微缺失易导致特发性全面性癫痫。
Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20.
7
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.特发性全身性癫痫中的家族性和散发性15q13.3微缺失：复杂遗传疾病的先例。
Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10.
8
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.15q13.3微缺失增加特发性全身性癫痫的风险。
Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11.
9
Detection of large-scale variation in the human genome.人类基因组中大规模变异的检测。
Nat Genet. 2004 Sep;36(9):949-51. doi: 10.1038/ng1416. Epub 2004 Aug 1.
10
Large-scale copy number polymorphism in the human genome.人类基因组中的大规模拷贝数多态性。
Science. 2004 Jul 23;305(5683):525-8. doi: 10.1126/science.1098918.

Copy Number Matters in Epilepsy.

作者信息

Mefford Heather C

出版信息

Epilepsy Curr. 2015 Jul-Aug;15(4):180-2. doi: 10.5698/1535-7511-15.4.180.

DOI:10.5698/1535-7511-15.4.180
PMID:26316861
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4532226/
Abstract
摘要