TY  - JOUR
ID  - SisLab2518
UR  - https://eprints.uet.vnu.edu.vn/eprints/id/eprint/2518/
A1  - Le, Sy Vinh
A1  - Le, Truc
A1  - Le, Van Khanh
A1  - Kieu, Huynh
A1  - Do, Hang
Y1  - 2017///
N2  - 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 ?3-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.
PB  - Wiley
JF  - American Journal of Medical Genetics Part A
VL  - 9999
SN  - 1552-4833
TI  - A mutation in GABRB3 associated with Dravet syndrome
SP  - 1
AV  - public
EP  - 6
ER  -