Clinical characteristics and whole exon sequence study of a Chinese family with autosomal dominant lateral temporal lobe epilepsy / 中华内科杂志

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.