<> "The repository administrator has not yet configured an RDF license."^^ . <> . . . "A mutation in GABRB3 associated with Dravet syndrome"^^ . "Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70–80% of\r\n patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1\r\n subunit of the sodium channel, while some simplex patients have variants in one of several other\r\ngenes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study,\r\n we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to\r\n identify other genes related to this disorder. In one affected individual, we detected a novel de\r\n novo heterozygous missense variant, c.695G>A, p.(Arg232Gln), in GABRB3, the gene encoding\r\n the β3-subunit of the gamma-aminobutyric acid type A (GABAA) receptor, which mediates\r\ninhibitory signaling within the central nervous system. In summary, the data in this study identify\r\n GABRB3 as a candidate gene for Dravet syndrome."^^ . "2017" . . "9999" . . "Wiley"^^ . . . "American Journal of Medical Genetics Part A"^^ . . . "15524833" . . . . . . . . . . . . . . . . . . . "Hang"^^ . "Do"^^ . "Hang Do"^^ . . "Huynh"^^ . "Kieu"^^ . "Huynh Kieu"^^ . . "Van Khanh"^^ . "Le"^^ . "Van Khanh Le"^^ . . "Truc"^^ . "Le"^^ . "Truc Le"^^ . . "Sy Vinh"^^ . "Le"^^ . "Sy Vinh Le"^^ . . . . . . "A mutation in GABRB3 associated with Dravet syndrome (PDF)"^^ . . . "Vinh_2017.pdf"^^ . . "HTML Summary of #2518 \n\nA mutation in GABRB3 associated with Dravet syndrome\n\n" . "text/html" . . . "Information Technology (IT)"@en . . . "ISI-indexed journals"@en . .