深部脑刺激用于治疗MECP2重复综合征中的癫痫发作 - Suppr | 超能文献

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Deep brain stimulation for the management of seizures in MECP2 duplication syndrome.深部脑刺激用于治疗MECP2重复综合征中的癫痫发作

Seizure. 2014 May;23(5):405-7. doi: 10.1016/j.seizure.2014.01.021. Epub 2014 Feb 2.

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Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies.进食诱发的 MECP2 重复综合征男孩癫痫性痉挛：遗传性癫痫发病机制的新见解。

Epileptic Disord. 2012 Dec;14(4):414-7. doi: 10.1684/epd.2012.0546.

3

[MECP2 duplication syndrome: a clinical analysis of three cases and literature review].[甲基化CpG结合蛋白2重复综合征：三例临床分析及文献复习]

Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):489-493. doi: 10.7499/j.issn.1008-8830.2017.05.001.

4

MECP2 duplication syndrome in both genders.男女均患的MeCP2重复综合征。

Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9.

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.Xq28区域的结构变异：1%原因不明的X连锁智力发育迟缓患者及2%患有严重脑病的男性患者存在MECP2基因重复。

Eur J Hum Genet. 2009 Apr;17(4):444-53. doi: 10.1038/ejhg.2008.208. Epub 2008 Nov 5.

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Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.先天性异常胎儿及MECP2区域重复的产前诊断。

Gene. 2014 Aug 10;546(2):222-5. doi: 10.1016/j.gene.2014.06.012. Epub 2014 Jun 7.

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Dravet syndrome and deep brain stimulation: seizure control after 10 years of treatment.德拉韦特综合征与深部脑刺激：10 年治疗后的癫痫控制。

Epilepsia. 2010 Jul;51(7):1314-6. doi: 10.1111/j.1528-1167.2009.02408.x. Epub 2009 Nov 16.

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X-linked mental deficiency.X连锁智力缺陷

Handb Clin Neurol. 2013;111:297-306. doi: 10.1016/B978-0-444-52891-9.00035-X.

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The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.MECP2重复综合征的临床变异性：两个不包含L1CAM和FLNA重复的家系描述

Clin Genet. 2009 Mar;75(3):301-3. doi: 10.1111/j.1399-0004.2008.01102.x. Epub 2008 Nov 1.

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High frequency stimulation of the mamillothalamic tract for the treatment of resistant seizures associated with hypothalamic hamartoma.高频刺激乳头丘脑束治疗与下丘脑错构瘤相关的耐药性癫痫发作。

Epilepsia. 2009 Jun;50(6):1608-11. doi: 10.1111/j.1528-1167.2008.01995.x. Epub 2009 Feb 23.

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MECP2-related disorders while gene-based therapies are on the horizon.在基于基因的疗法即将出现之际的与MECP2相关的疾病。

Front Genet. 2024 Feb 12;15:1332469. doi: 10.3389/fgene.2024.1332469. eCollection 2024.

2

duplication syndrome: The electroclinical features of a case with long-term evolution.重复综合征：一例长期演变病例的电临床特征

Epilepsy Behav Rep. 2022 Apr 19;19:100541. doi: 10.1016/j.ebr.2022.100541. eCollection 2022.

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A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.MECP2 重复综合征简史：20 年的临床认识。