难治性颞叶癫痫患者钠离子通道SCN1A基因突变分析  

Mutation analysis of SCN1A gene in patients with intractable temporal lobe epilepsy

作　　者：王志红[1] 郭小艳[1] 周春燕[1] 兰风华[1] 

机构地区：[1]南京军区福州总医院实验科,福建福州350025

出　　处：《国际检验医学杂志》2013年第1期36-37,39,共3页International Journal of Laboratory Medicine

摘　　要：目的对难治性颞叶癫痫(TLE)患者钠离子通道SCN1A基因进行序列分析,查找突变位点。方法采用聚合酶链反应及测序技术对10例难治性TLE患者和50例健康者进行SCN1A基因26个外显子和部分侧翼内含子序列分析。结果 1例患者SCN1A基因外显子10检出1个同义突变c.1410T>C。在所有标本中另检出4个碱基突变,即c.1212A>G、c.965-21C>T、c.1028+21T>C和c.1377+52G>A。结论经查阅国内外相关文献及SCN1A突变数据库,c.1410T>C为新发现的突变,其他4个碱基突变为多态性。Objective To identify the SCN1A gene mutation in patients with intractable temporal lobe epilepsy（TLE）.Methods Ten patients with intractable TLE and 50 healthy subjects were enrolled and detected for SCN1A mutation among twenty-six exons and the flank introns by polymerase chain reaction and sequencing.Results A synonymous mutation（c.1410 TC） was identified in one patient,and four variants,including c.1212 AG,c.965-21 CT,c.1028＋21 TC and c.1377＋52 GA,were identified in all enrolled subjects.Conclusion According to the SCN1A variant database,c.1410 TC might be a novel synonymous mutation,and other four variants could be polymorphisms.

关 键 词：癫痫 颞叶 难治性癫痫 SCN1A基因 基因突变 

分 类 号：R742.1[医药卫生—神经病学与精神病学]