계명대학교 의학도서관 Repository

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Metadata Downloads
Author(s)
Su-Kyeong HwangYoshio MakitaHirokazu KurahashiYong-Won ChoShinichi Hirose
Keimyung Author(s)
Cho, Yong Won
Department
Dept. of Neurology (신경과학)
Journal Title
Journal of Human Genetics
Issued Date
2011
Volume
56
Issue
8
Keyword
acetylcholine receptorautosomal dominant nocturnal frontal lobe epilepsyepilepsyfounder effectmutation
Abstract
Autosomal dominant nocturnal frontal lobe epilepsy is a familial partial epilepsy syndrome and the first human idiopathic
epilepsy known to be related to specific gene defects. Clinically available molecular genetic testing reveals mutations in
three genes, CHRNA4, CHRNB2 and CHRNA2. Mutations in CHRNA4 have been found in families from different countries;
the Ser280Phe in an Australian, Spanish, Norwegian and Scottish families, and the Ser284Leu in a Japanese, Korean,
Polish and Lebanese families. Clear evidence for founder effect was not reported among them, including a haplotype
study carried out on the Australian and Norwegian families. Japanese and Koreans, because of their geographical closeness
and historical interactions, show greater genetic similarities than do the populations of other countries where the mutation
is found. Haplotype analysis in the two previously reported families showed, however, independent occurrence of the
Ser284Leu mutation. The affected nucleotide was highly conserved and associated with a CpG hypermutable site, while
other CHRNA4 mutations were not in mutation hot spots. Association with a CpG site accounts for independent occurrence
of the Ser284Leu mutation.
Keimyung Author(s)(Kor)
조용원
Publisher
School of Medicine
Citation
Su-Kyeong Hwang et al. (2011). Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. Journal of Human Genetics, 56(8), 609–612. doi: 10.1038/jhg.2011.69
Type
Article
ISSN
1434-5161
Source
http://www.nature.com/articles/jhg201169
DOI
10.1038/jhg.2011.69
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34050
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Neurology (신경과학)
공개 및 라이선스
  • 공개 구분공개
  • 엠바고Forever
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.