以难治性癫癎为突出表现的14号环状染色体综合征1例报道及文献复习

陈晨, 吴丽文, 何芳, 杨丽芬, 苗圃, 马玉平, 王晓乐, 彭镜

中国当代儿科杂志 ›› 2017, Vol. 19 ›› Issue (9) : 949-951.

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中国当代儿科杂志 ›› 2017, Vol. 19 ›› Issue (9) : 949-951. DOI: 10.7499/j.issn.1008-8830.2017.09.001
癫癎及相关疾病专题

以难治性癫癎为突出表现的14号环状染色体综合征1例报道及文献复习

  • 陈晨, 吴丽文, 何芳, 杨丽芬, 苗圃, 马玉平, 王晓乐, 彭镜
作者信息 +

Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy

  • CHEN Chen, WU Li-Wen, HE Fang, et al
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陈晨, 吴丽文, 何芳, 杨丽芬, 苗圃, 马玉平, 王晓乐, 彭镜. 以难治性癫癎为突出表现的14号环状染色体综合征1例报道及文献复习[J]. 中国当代儿科杂志. 2017, 19(9): 949-951 https://doi.org/10.7499/j.issn.1008-8830.2017.09.001
CHEN Chen, WU Li-Wen, HE Fang, et al. Ring 14 chromosome syndrome in a boy mainly manifesting as drug-resistant epilepsy[J]. Chinese Journal of Contemporary Pediatrics. 2017, 19(9): 949-951 https://doi.org/10.7499/j.issn.1008-8830.2017.09.001

参考文献

[1] Kwan P, Arzimanoglou A, Berg AT, et al. Definition of drug resistant epilepsy:consensus proposal by the ad hoc Task Force of the ILAE Commission on therapeutic strategies[J]. Epilepsia, 2010, 51(6):1069-1077.
[2] Picot MC, Baldy-Moulinier M, Daurès JP, et al. The prevalence of epilepsy and pharmacoresistant epilepsy in adults:a population-based study in a estern European country[J]. Epilepsia, 2008, 49(7):1230-1238.
[3] Gilgenkrantz S, Cabrol C, Lausecker C, et al. The Dr syndrome. Study of a further case (46, XX, 14r)[J]. Ann Genet, 1971, 14(1):23-31.
[4] 沈红霞,马志敏,阿周存. 14号环状染色体综合征一例[J]. 中华医学遗传学杂志, 2012, 29(6):741.
[5] Giovannini S, Marangio L, Fusco C, et al. Epilepsy in ring 14 syndrome:a clinical and EEG study of 22 patients[J]. Epilepsia, 2013, 54(12):2204-2213.
[6] Ville D, DE Bellescize J, Nguyen MA, et al. Ring 14 chromosome presenting as early-onset isolated partial epilepsy[J]. Dev Med Child Neurol, 2009, 51(11):917-922.
[7] Zollino M, Ponzi E, Gobbi G, et al. The ring 14 syndrome[J]. Eur J Med Genet, 2012, 55(5):374-380.
[8] Zampini L, Zanchi P, D'Odorico L. Developing with ring 14 syndrome:A survey in different countries[J]. Clin Linguist Phon, 2014, 28(11):844-856.
[9] Guilherme RS, de Freitas Ayres Meloni V, Sodré CP, et al. Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14[J]. Am J Med Genet A, 2010, 152A(11):2865-2869.
[10] Guilherme RS, Moysés-Oliveira M, Dantas AG, et al. Position effect modifying gene expression in a patient with ring chromosome 14[J]. J Appl Genet, 2016, 57(2):183-187.
[11] Zollino M, Seminara L, Orteschi D, et al. The ring 14 syndrome:clinical and molecular definition[J]. Am J Med Genet A, 2009, 149A(6):1116-1124.
[12] Chung I, Chawla R, FitzGerald DE. Ocular manifestations of chromosome 14 terminal deletion[J]. J Pediatr Ophthalmol Strabismus, 2006, 43(2):104-106.

基金

重大慢性非传染性疾病防控研究(2016YFC1306202)。


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