欧洲杯线上买球

服务流程(cheng)

遗传性癫(dian)痫

       癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(epilepsy)是(shi)一种世界范(fan)围内常(chang)见(jian)的(de)(de)(de)(de)神(shen)经系统(tong)疾(ji)病。患者出现≥2次(间隔(ge)至少24h)非(fei)诱发(fa)性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)发(fa)作时,就可(ke)诊断癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)。据(ju)世界卫生组织(WHO)的(de)(de)(de)(de)报告显示,癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)的(de)(de)(de)(de)患病率在(zai)(zai)5.0‰-11.2‰。我国的(de)(de)(de)(de)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)患病率为7.2‰。遗传性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(genetic epilepsy),又名特发(fa)性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(idiopathic epilepsy),是(shi)一组除(chu)遗传因素外无其他潜在(zai)(zai)病因的(de)(de)(de)(de)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)和(he)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)综合征,约(yue)占(zhan)所(suo)有(you)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)的(de)(de)(de)(de)47%。其中,遗传性(xing)全面(mian)性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(genetic generalized epilepsy, GGEs),又名特发(fa)性(xing)全面(mian)性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(idiopathic generalized epilepsy, IGEs)是(shi)最常(chang)见(jian)的(de)(de)(de)(de)遗传性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian),占(zhan)所(suo)有(you)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)的(de)(de)(de)(de)30%,而儿童(tong)失(shi)神(shen)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)(childhood absence epilepsy, CAE)是(shi)遗传性(xing)全面(mian)性(xing)癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)的(de)(de)(de)(de)主要(yao)类(lei)型,约(yue)占(zhan)所(suo)有(you)小儿癫(dian)(dian)(dian)痫(xian)(xian)(xian)(xian)的(de)(de)(de)(de)10%。

       遗(yi)传性癫痫(xian)(xian)(xian)(xian)以发(fa)(fa)(fa)病时间具年龄相(xiang)关性、神经(jing)系(xi)统(tong)和认知发(fa)(fa)(fa)育正常及无(wu)脑损伤(shang)为特征。目前(qian)认为,仅(jin)1%-2%的(de)遗(yi)传性癫痫(xian)(xian)(xian)(xian)是单基因(yin)(yin)(yin)引起,多数遗(yi)传性癫痫(xian)(xian)(xian)(xian)为多基因(yin)(yin)(yin)疾病。近年来发(fa)(fa)(fa)现的(de)与癫痫(xian)(xian)(xian)(xian)相(xiang)关的(de)基因(yin)(yin)(yin),多数为电压门控或(huo)配(pei)体门控离(li)子通道(dao)编(bian)码基因(yin)(yin)(yin)。另外,也有(you)少(shao)数癫痫(xian)(xian)(xian)(xian)易感(gan)基因(yin)(yin)(yin)是非(fei)离(li)子通道(dao)基因(yin)(yin)(yin),但这(zhei)些基因(yin)(yin)(yin)所编(bian)码的(de)蛋白可(ke)与离(li)子通道(dao)相(xiang)互作用。研究发(fa)(fa)(fa)现,易感(gan)基因(yin)(yin)(yin)的(de)变(bian)异是引发(fa)(fa)(fa)癫痫(xian)(xian)(xian)(xian)的(de)重要原因(yin)(yin)(yin),但其并不是唯一(yi)的(de)致(zhi)病模式(shi)。CNVs(包括基因(yin)(yin)(yin)片段的(de)缺失、插入或(huo)重复(fu))很可(ke)能是另一(yi)致(zhi)病因(yin)(yin)(yin)素。因(yin)(yin)(yin)此,对癫痫(xian)(xian)(xian)(xian)(尤(you)其是IGEs)进行分(fen)子检测有(you)助于临床(chuang)诊断及分(fen)型(xing),为疾病的(de)治(zhi)疗(liao)及遗(yi)传咨询提(ti)供依据(ju)。

 

检测项目

遗传性癫痫

在遗传性癫痫患者中,离子通道编码基因的变异是引发癫痫的重要原因。与遗传性癫痫相关的基因包括CHRNA4、CHRNB2、CHRNA2、KCNQ2、KCNQ3、SCN2A、SCN1A、GABRG2等。中翰欧洲杯线上买球 医学检验所通过对数据库、文献检索收集整理了与遗传性癫痫相关的致病基因,并对其测序,通过生物信息分析对这些基因信息进行解读,为寻找遗传性癫痫致病原因提供依据。

 

项(xiang)目名称(cheng):遗(yi)传(chuan)性癫痫(xian)(靶(ba)向(xiang)测序(xu))

项(xiang)目编号(hao):1010009

检测方法:NGS

检测内容:300+个基因(yin)

样本(ben)要求:受检者EDTA抗凝全血2ml + 受检者父母EDTA抗凝全血各2ml

检测周期:35个(ge)工(gong)作(zuo)日

项目(mu)收费:请询(xun)价

 

参(can)考文献(xian)

1.    Weber Y G, Lerche H. Genetic mechanisms in idiopathic epilepsies. Developmental Medicine & Child Neurology, 2008, 50(9):648.

2.     Gallentine W B, Mikati M A. Genetic generalized epilepsies. Journal of Clinical Neurophysiology Official Publication of the American Electroencephalographic Society, 2012, 29(5):408-19.

3.     蒋永莉, 杨西爱(ai), 杨颖(ying),等. 癫(dian)痫遗传学研究新进展. 中华神经(jing)科杂志, 2017, 50(6).

4.     姜玉武, 谢涵. 特发性全面性癫痫的遗传学研究进展. 北京大学学报(医学版)医学版, 2013, 45(2):186-191.