[Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy].
作者信息
Chen Chen, Wu Li-Wen, He Fang, Yang Li-Fen, Miao Pu, Ma Yu-Ping, Wang Xiao-Le, Peng Jing
机构信息
Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
出版信息
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):949-951. doi: 10.7499/j.issn.1008-8830.2017.09.001.
Abstract
摘要
相似文献
1
[Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy].[一名主要表现为耐药性癫痫的男孩的14号环状染色体综合征]
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Sep;19(9):949-951. doi: 10.7499/j.issn.1008-8830.2017.09.001.
2
[Stimulation of the centromedian nucleus in refractory epilepsy associated to ring chromosome 20].[与20号环状染色体相关的难治性癫痫中中央中核的刺激]
Rev Neurol. 2015 Jun 16;60(12):548-52.
3
Transcriptome analysis of a ring chromosome 20 patient cohort.转录组分析一个 20 号环状染色体患者队列。
Epilepsia. 2021 Jan;62(1):e22-e28. doi: 10.1111/epi.16766. Epub 2020 Nov 18.
4
Ring chromosome 14 syndrome presenting with intractable epilepsy: a case report.以难治性癫痫为表现的14号环状染色体综合征：一例报告
Turk J Pediatr. 2013 Sep-Oct;55(5):549-51.
5
[The ring chromosome 14 syndrome].
Ugeskr Laeger. 1992 Nov 9;154(46):3248-9.
6
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome.患者患有环形 14 号染色体综合征，出现部分性癫痫并发惊厥性和非惊厥性癫痫持续状态。
Epileptic Disord. 2010 Sep;12(3):222-7. doi: 10.1684/epd.2010.0324. Epub 2010 Jul 19.
7
Refractory and severe status epilepticus in a patient with ring chromosome 20 syndrome.
Brain Dev. 2016 Sep;38(8):746-9. doi: 10.1016/j.braindev.2016.02.013. Epub 2016 Mar 12.
8
[r14 syndrome without major dysmorphism].
Ann Genet. 1990;33(3):155-8.
9
[Epilepsy in ring chromosome 14 syndrome].
Arq Neuropsiquiatr. 1989 Jun;47(2):205-11. doi: 10.1590/s0004-282x1989000200013.
10
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.17号环状染色体癫痫可能类似于20号环状染色体综合征的癫痫。
Epileptic Disord. 2007 Sep;9(3):327-31. doi: 10.1684/epd.2007.0121. Epub 2007 Sep 20.
引用本文的文献
1
Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.14号环状染色体综合征患者的染色体不稳定：一例报告
Mol Cytogenet. 2024 Jul 18;17(1):17. doi: 10.1186/s13039-024-00686-0.
本文引用的文献
1
Position effect modifying gene expression in a patient with ring chromosome 14.位置效应改变14号环状染色体患者的基因表达。
J Appl Genet. 2016 May;57(2):183-7. doi: 10.1007/s13353-015-0311-8. Epub 2015 Aug 28.
2
Developing with ring 14 syndrome: a survey in different countries.14号环状染色体综合征的发展：不同国家的一项调查。
Clin Linguist Phon. 2014 Nov;28(11):844-56. doi: 10.3109/02699206.2014.911963. Epub 2014 Apr 29.
3
Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients.14 号染色体环异常综合征相关癫痫：22 例患者的临床和脑电图研究。
Epilepsia. 2013 Dec;54(12):2204-13. doi: 10.1111/epi.12393. Epub 2013 Oct 1.
4
The ring 14 syndrome.
Eur J Med Genet. 2012 May;55(5):374-80. doi: 10.1016/j.ejmg.2012.03.009. Epub 2012 Apr 14.
5
Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.染色体核型和分子分析评估及 14 号环状染色体患者 20 年随访
Am J Med Genet A. 2010 Nov;152A(11):2865-9. doi: 10.1002/ajmg.a.33689.
6
Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies.耐药性癫痫的定义：国际抗癫痫联盟治疗策略特别工作组的共识提案。
Epilepsia. 2010 Jun;51(6):1069-77. doi: 10.1111/j.1528-1167.2009.02397.x. Epub 2009 Nov 3.
7
The ring 14 syndrome: clinical and molecular definition.14号环状染色体综合征：临床与分子学定义
Am J Med Genet A. 2009 Jun;149A(6):1116-24. doi: 10.1002/ajmg.a.32831.
8
Ring 14 chromosome presenting as early-onset isolated partial epilepsy.14号环状染色体表现为早发性孤立性部分性癫痫。
Dev Med Child Neurol. 2009 Nov;51(11):917-22. doi: 10.1111/j.1469-8749.2009.03292.x. Epub 2009 Mar 31.
9
The prevalence of epilepsy and pharmacoresistant epilepsy in adults: a population-based study in a Western European country.成人癫痫和药物抵抗性癫痫的患病率：一项在西欧某国开展的基于人群的研究。
Epilepsia. 2008 Jul;49(7):1230-8. doi: 10.1111/j.1528-1167.2008.01579.x.
10
Ocular manifestations of chromosome 14 terminal deletion.14号染色体末端缺失的眼部表现。
J Pediatr Ophthalmol Strabismus. 2006 Mar-Apr;43(2):104-6. doi: 10.3928/0191-3913-20060301-11.
Zotero 插件