诊断之路：缩短癫痫的诊断历程
The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy.
作者信息
Mefford Heather C
出版信息
Epilepsy Curr. 2019 Sep;19(5):307-309. doi: 10.1177/1535759719871593. Epub 2019 Sep 2.
Abstract
[Box: see text].
摘要
[方框：见正文]。
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本文引用的文献
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Front Neurol. 2019 May 21;10:434. doi: 10.3389/fneur.2019.00434. eCollection 2019.
2
De novo variants in neurodevelopmental disorders with epilepsy.神经发育障碍伴癫痫的从头变异。
Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
3
Clinical and genetic spectrum of a large cohort of children with epilepsy in China.中国一大群癫痫患儿的临床和遗传谱。
Genet Med. 2019 Mar;21(3):564-571. doi: 10.1038/s41436-018-0091-8. Epub 2018 Jun 21.
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A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.基于人群的婴儿期重度癫痫症早期基因检测的成本效益研究。
Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11.
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.将外显子组测序纳入癫痫性脑病的诊断路径：临床实用性和成本效益的证据。
Mol Genet Genomic Med. 2018 Mar;6(2):186-199. doi: 10.1002/mgg3.355. Epub 2018 Jan 4.
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Genet Med. 2016 Sep;18(9):898-905. doi: 10.1038/gim.2015.186. Epub 2016 Jan 21.
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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.
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Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13.
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