eprintid: 2518
rev_number: 13
eprint_status: archive
userid: 326
dir: disk0/00/00/25/18
datestamp: 2017-07-03 07:57:23
lastmod: 2017-07-03 07:57:23
status_changed: 2017-07-03 07:57:23
type: article
metadata_visibility: show
creators_name: Le, Sy Vinh
creators_name: Le, Truc
creators_name: Le, Van Khanh
creators_name: Kieu, Huynh
creators_name: Do, Hang
creators_id: vinhls@vnu.edu.vn
creators_id: hangdo009@gmail.com
title: A mutation in GABRB3 associated with Dravet syndrome
ispublished: pub
subjects: IT
subjects: isi
divisions: fac_fit
abstract: Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70–80% of
 patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1
 subunit of the sodium channel, while some simplex patients have variants in one of several other
genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study,
 we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to
 identify other genes related to this disorder. In one affected individual, we detected a novel de
 novo heterozygous missense variant, c.695G>A, p.(Arg232Gln), in GABRB3, the gene encoding
 the β3-subunit of the gamma-aminobutyric acid type A (GABAA) receptor, which mediates
inhibitory signaling within the central nervous system. In summary, the data in this study identify
 GABRB3 as a candidate gene for Dravet syndrome.
date: 2017
date_type: published
publisher: Wiley
full_text_status: public
publication: American Journal of Medical Genetics Part A
volume: 9999
pagerange: 1-6
refereed: TRUE
issn: 1552-4833
citation:   Le, Sy Vinh and Le, Truc and Le, Van Khanh and Kieu, Huynh and Do, Hang  (2017) A mutation in GABRB3 associated with Dravet syndrome.  American Journal of Medical Genetics Part A, 9999 .   pp. 1-6.  ISSN 1552-4833     
document_url: https://eprints.uet.vnu.edu.vn/eprints/id/eprint/2518/1/Vinh_2017.pdf