[Clinical characteristics and whole exon sequence study of a Chinese family with autosomal dominant lateral temporal lobe epilepsy].
Zhonghua Nei Ke Za Zhi
; 57(1): 44-47, 2018 Jan 01.
Article
de Zh
| MEDLINE
| ID: mdl-29325310
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.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Troubles de la veille et du sommeil
/
Protéines
/
Exons
/
Épilepsie du lobe frontal
/
Asiatiques
Type d'étude:
Diagnostic_studies
/
Prognostic_studies
Limites:
Humans
Langue:
Zh
Journal:
Zhonghua Nei Ke Za Zhi
Année:
2018
Type de document:
Article