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A mutation in GABRB3 associated with Dravet syndrome

Sy Vinh Le and Truc Le and Van Khanh Le and Huynh Kieu and Hang Do (2017) A mutation in GABRB3 associated with Dravet syndrome. American Journal of Medical Genetics Part A, 9999 . pp. 1-6. ISSN 1552-4833

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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.

Item Type:Article
Subjects:Information Technology (IT)
ISI-indexed journals
Divisions:Faculty of Information Technology (FIT)
ID Code:2518
Deposited By: Lê Sỹ Vinh
Deposited On:03 Jul 2017 07:57
Last Modified:03 Jul 2017 07:57

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