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癫痫患者应在何时进行基因检测?

When Should Genetic Testing Be Performed in Epilepsy Patients?

作者信息

Poduri Annapurna

机构信息

Attending Physician/Director, Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA.

出版信息

Epilepsy Curr. 2017 Jan-Feb;17(1):16-22. doi: 10.5698/1535-7511-17.1.16.

DOI:10.5698/1535-7511-17.1.16
PMID:28331464
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5340549/
Abstract

This review is a summary of a talk presented at the 2015 American Epilepsy Society Annual Meeting. Its purposes are 1) to review developments in epilepsy genetics, 2) to discuss which groups of patients with epilepsy might benefit from genetic testing, and 3) to present a rational approach to genetic testing in epilepsy in the rapidly evolving era of genomic medicine.

摘要

本综述是在2015年美国癫痫协会年会上发表的一次演讲的总结。其目的在于:1)回顾癫痫遗传学的发展;2)讨论哪些癫痫患者群体可能从基因检测中获益;3)在基因组医学快速发展的时代,提出一种针对癫痫进行基因检测的合理方法。

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When Should Genetic Testing Be Performed in Epilepsy Patients?癫痫患者应在何时进行基因检测?
Epilepsy Curr. 2017 Jan-Feb;17(1):16-22. doi: 10.5698/1535-7511-17.1.16.
2
Epilepsy Genetics: Advancements in the Field and Impact on Clinical Practice癫痫遗传学:该领域的进展及其对临床实践的影响
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Genetic Testing in the Presurgical Evaluation of Drug-Resistant Epilepsy: Bells and Whistles or Nuts and Bolts?耐药性癫痫术前评估中的基因检测:华而不实还是关键要素?
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本文引用的文献

1
Tissue-specific mutation accumulation in human adult stem cells during life.人类成体干细胞在生命过程中的组织特异性突变积累。
Nature. 2016 Oct 13;538(7624):260-264. doi: 10.1038/nature19768. Epub 2016 Oct 3.
2
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.GATOR复合体基因在家族性局灶性癫痫和局灶性皮质发育不良中的作用。
Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13.
3
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.MTOR 基因突变与发育性脑疾病的关联,包括巨脑症、局灶性皮质发育不良和色素镶嵌症。
JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.
4
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.通过基因panel分析改善早发性癫痫和严重发育迟缓障碍的诊断并拓宽其表型。
J Med Genet. 2016 May;53(5):310-7. doi: 10.1136/jmedgenet-2015-103263. Epub 2016 Mar 18.
5
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.伴有 PCDH19 突变的患者中抗癫痫治疗的有效性。
Seizure. 2016 Feb;35:106-10. doi: 10.1016/j.seizure.2016.01.006. Epub 2016 Jan 6.
6
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.诊断性外显子组测序可为相当一部分癫痫患者提供分子诊断。
Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
7
The contribution of next generation sequencing to epilepsy genetics.下一代测序技术对癫痫遗传学的贡献。
Expert Rev Mol Diagn. 2015;15(12):1531-8. doi: 10.1586/14737159.2015.1113132. Epub 2015 Nov 13.
8
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.大脑外侧裂周围多小脑回中磷酸肌醇-3-激酶调节亚基PIK3R2突变的特征:一项二代测序研究
Lancet Neurol. 2015 Dec;14(12):1182-95. doi: 10.1016/S1474-4422(15)00278-1. Epub 2015 Oct 29.
9
Somatic mutation in single human neurons tracks developmental and transcriptional history.单个人类神经元中的体细胞突变追踪发育和转录历史。
Science. 2015 Oct 2;350(6256):94-98. doi: 10.1126/science.aab1785.
10
A roadmap for precision medicine in the epilepsies.癫痫精准医学路线图。
Lancet Neurol. 2015 Dec;14(12):1219-28. doi: 10.1016/S1474-4422(15)00199-4. Epub 2015 Sep 20.