95例癫痫患儿的基因型表型分析及临床研究

发布时间：2018-03-14 06:22

本文选题：儿童　切入点：癫痫　出处：《癫痫杂志》2017年06期 　论文类型：期刊论文

【摘要】：目的总结临床诊治中的难治性或某些疑为遗传相关的癫痫患儿的临床特点,并对其进行二代高通量基因测序及一代验证,分析突变基因与癫痫之间的关系,了解患儿的遗传模式,寻找致病或可能致病的突变基因。方法对2014年9月-2016年12月期间在河南省人民医院儿科神经内科门诊确诊癫痫的95例患儿及其父母建立完整家系资料库,采用二代高通量基因测序方法对其进行了基因检测,依据患儿临床特征及基因型进行分析。结果难治性或疑为遗传相关的患儿年龄发病范围较小,临床发作特点多种多样,多数(47/95,49.5%)需要两种及以上药物治疗,治疗效果一般,控制27例(28.4%),有效20例(21.1%),显效32例(33.7%),无效12例(12.6%),失访4例(4.2%)。少数(18/95,18.9%)预后较差,合并有运动、智力发育落后检测基因型结果,明确致病的基因共16例(16.8%),可能致病的基因共21例(22.1%),不致病的基因共30例(31.6%),未检测到突变基因共28例(29.5%)结论发现CASK、BRAF两个新的致病基因,国内报道甚少,在一定意义上扩充了神经发育相关的癫痫基因和癫痫关联基因的数目;SCN1A基因突变所致Dravet综合征的患儿的临床特征更严重,包括起病更早、发作频繁、治疗效果差;有明确致病基因的患儿,多数需要两种及以上抗癫痫药物联合应用,治疗困难。
[Abstract]:Objective to summarize the clinical characteristics of children with intractable epilepsy or some suspected hereditary epilepsy in clinical diagnosis and treatment, and to analyze the relationship between mutation gene and epilepsy by the second generation high-throughput gene sequencing and generation verification. To understand the genetic pattern of the children and to find out the mutation genes that cause or possibly cause the disease. Methods A complete family database was established for 95 children and their parents who were diagnosed epilepsy in the Department of Pediatric Neurology Department of Henan Provincial people's Hospital from September 2014 to December 2016. The second generation high-throughput gene sequencing method was used to detect the gene, and the clinical characteristics and genotypes of the children were analyzed. Results the children with refractory or suspected genetic correlation had a small age range and varied clinical attack characteristics. Most 47 / 95 / 49.5) need two or more kinds of medicine treatment, the curative effect is medial, control 27 cases (28.4m), effective 20 cases (21. 1%), effective 32 cases (33. 7%), ineffective 12 cases (12. 6%), missing visit 4 cases (4 / 2) poor prognosis, combined with motor, mental retardation test genotypic results, There were 16 cases of pathogenetic genes, 21 cases of possible genes, 30 cases of non-pathogenic genes, and 28 cases of non-pathogenic genes. Conclusion two new pathogenic genes of CASK-BRAF were found in China. The clinical characteristics of children with Dravet syndrome caused by mutation of SCN1A gene were more serious, including earlier onset, frequent attack and poor therapeutic effect. Most children with definite pathogenic genes need two or more antiepileptic drugs, so it is difficult to treat them.
【作者单位】：河南省人民医院神经内科;
【分类号】：R742.1

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