Clinical characteristics and whole exon sequence study of a Chinese family with autosomal dominant lateral temporal lobe epilepsy

VernacularTitle:中国常染色体显性遗传颞叶外侧癫痫一家系的临床特征和全外显子测序分析
Author: Chengyu LI ¹ ; Huajun YANG ; Ruijuan LYU ; Qun WANG
Author Information

1. 首都医科大学附属北京天坛医院神经病学中心癫痫科
Keywords: Epilepsy,temporal lobe; Whole exon sequencing; LGI1 gene
From: Chinese Journal of Internal Medicine 2018;57(1):44-47
CountryChina
Language:Chinese
Abstract: 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.