候选基因 cHRNA4 与家族性癫痫综合征的研究。

Study of candidate gene cHRNA4 for familial epilepsy syndrome.

机构信息

Department of Neurology, The First People's Hospital of Xuzhou, Xuzhou, Jiangsu, P.R. China.

出版信息

Eur Rev Med Pharmacol Sci. 2018 Mar;22(6):1765-1769. doi: 10.26355/eurrev_201803_14594.

DOI:10.26355/eurrev_201803_14594

PMID:29630124

Abstract

OBJECTIVE

To screen a three-generation familial partial epilepsy with variable foci (FPEVF) family with epilepsy to identify the cHRNA4 gene (a candidate gene).

PATIENTS AND METHODS

A total of 18 members of the three-generation FPEVF family with partial epilepsy were selected, and 18 blood samples were collected for investigation. Among them, five members were affected by epilepsy, and another 13 members were not affected. A pedigree chart was mapped to comprehensively analyze the clinical characteristics of each member, including ictal semiology, electroencephalogram (EEG), past medical history, MRI features, neuropsychological MMSE (mini-mental state examination) scores, etc. PCR and Sanger sequencing method were used to screen the mutant gene cHRNA4.

RESULTS

cHRNA4 genes of all affected members were positively mutated, and that of the unaffected members were negative. The positive mutation was base A instead of base G.

CONCLUSIONS

cHRNA4 is the causative gene of FPEVF, and genes of the affected members are all heterozygotes mutations.

摘要

目的

对一个三代家族性部分癫痫伴可变焦点（FPEVF）癫痫家系进行筛查，以鉴定 cHRNA4 基因（候选基因）。

方法

选择三代 FPEVF 伴部分癫痫的 18 名家族成员，采集 18 份血样进行调查。其中，5 名成员患有癫痫，另外 13 名成员未受影响。绘制家系图以全面分析每个成员的临床特征，包括发作半侧化、脑电图（EEG）、既往病史、MRI 特征、神经心理学 MMSE（简易精神状态检查）评分等。采用 PCR 和 Sanger 测序法筛选突变基因 cHRNA4。