Objective: To explore the genetic characteristics in a Chinese family with autosomal dominant lateral temporal lobe epilepsy (ADLTE) and analyze the correlation between genotype and phenotype. Methods: The natural history, clinical data and peripheral blood sample were collected in all patients and two healthy members of this ADLTE family. Whole exon sequence (WES) analysis strategy was used to explore the underlying mutations. Possible causative genetic variation was further confirmed by direct PCR and Sanger sequencing. The genotype-phenotype features were compared with previously reported cases. Results: A novel pathogenetic LGI1 frameshift mutation p.T134fs was identified in this study. The clinical phenotype was different from reported. Conclusion: This study reports a pathogenic LGI1 mutation in a Chinese ADLTE family for the first time, which suggests that LGI1 is a new genetic abnormality of ADLTE in Chinese.
目的： 对一个常染色体显性遗传颞叶外侧癫痫（ADLTE）家系进行遗传学研究，探索引起该家系发病的遗传学基础，并对其进行基因型-临床表型分析。 方法： 对该家系进行详细的病史询问、临床信息收集和家系调查，采集所有患病成员和尽可能多的健康成员的外周血，对其基因组DNA进行全外显子测序分析，通过数据分析筛选到可能的致病变异后使用生物信息学软件对变异进行功能预测，聚合酶链反应(PCR)结合DNA测序进一步验证。检索国内外与之相关的研究，结合文献进行基因突变型-临床表型分析。 结果： 该家系中共分离出1个致病性富亮氨酸胶质瘤失活蛋白1（LGI1）基因移码突变p.T134fs，所引起的临床表型和既往文献报道的特征有所不同。 结论： 首次在中国ADLTE患者中发现了LGI1基因致病性突变，证明LGI1基因也是中国裔ADLTE的遗传学病因。.
Keywords: Epilepsy, temporal lobe; LGI1 gene; Whole exon sequencing.