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本文引用的文献

1
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.NECAP1功能丧失导致严重的婴儿癫痫性脑病。
J Med Genet. 2014 Apr;51(4):224-8. doi: 10.1136/jmedgenet-2013-102030. Epub 2014 Jan 7.
2
De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.通过全外显子组测序在一名患有新生儿癫痫性脑病、多种先天性异常和运动障碍的男孩中鉴定出的新发SCN8A突变。
J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18.
3
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.CHD2 基因新生致病变异导致一种热性敏感性肌阵挛癫痫性脑病,与 Dravet 综合征具有共同特征。
Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24.
4
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.全外显子组测序鉴定出与癫痫性脑病相关的线粒体 MT-ND1 基因变异:West 综合征发展为 Lennox-Gastaut 综合征。
Hum Mutat. 2013 Dec;34(12):1623-7. doi: 10.1002/humu.22445. Epub 2013 Oct 10.
5
De novo mutations in epileptic encephalopathies.癫痫性脑病中的从头突变。
Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.
6
Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum.双等位基因 SZT2 突变导致伴有癫痫和脑回发育不良的婴儿型脑病。
Am J Hum Genet. 2013 Sep 5;93(3):524-9. doi: 10.1016/j.ajhg.2013.07.005. Epub 2013 Aug 8.
7
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.外显子组测序揭示癫痫性脑病患儿的新致病突变。
Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.
8
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.

Toward routine genetics-based diagnoses for the epileptic encephalopathies.

作者信息

Escayg Andrew, Wong Jennifer C

出版信息

Epilepsy Curr. 2014 May;14(3):158-60. doi: 10.5698/1535-7597-14.3.158.

DOI:10.5698/1535-7597-14.3.158
PMID:24940165
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4038286/
Abstract
摘要