{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T04:15:00Z","timestamp":1769832900333,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,5,24]],"date-time":"2017-05-24T00:00:00Z","timestamp":1495584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004692","name":"University of Science Ho Chi Minh City","doi-asserted-by":"publisher","award":["C2017\u201044\u201002"],"award-info":[{"award-number":["C2017\u201044\u201002"]}],"id":[{"id":"10.13039\/501100004692","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70\u201380% of patients with Dravet syndrome have mutations in <jats:italic>SCN1A<\/jats:italic>, the gene encoding the alpha\u20101 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to <jats:italic>GABRA1, SCN2A, STXBP1, GABRG2<\/jats:italic>, and <jats:italic>SCN1B<\/jats:italic>. In this study, we performed exome sequencing in six patients with <jats:italic>SCN1A<\/jats:italic>\u2010negative 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&gt;A, p.(Arg232Gln), in <jats:italic>GABRB3<\/jats:italic>, the gene encoding the \u03b23\u2010subunit of the gamma\u2010aminobutyric acid type A (GABAA) receptor, which mediates inhibitory signaling within the central nervous system. In summary, the data in this study identify <jats:italic>GABRB3<\/jats:italic> as a candidate gene for Dravet syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38282","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T16:13:11Z","timestamp":1495728791000},"page":"2126-2131","source":"Crossref","is-referenced-by-count":28,"title":["A mutation in <i>GABRB3<\/i> associated with Dravet syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Sy Vinh","family":"Le","sequence":"first","affiliation":[{"name":"University of Engineering and Technology Vietnam National University Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Phan Hoang Truc","family":"Le","sequence":"additional","affiliation":[{"name":"Faculty of Biology and Biotechnology, University of Science Vietnam National University HCMC Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Khanh Van","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Neurology Children Hospital 2 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi Thuy","family":"Kieu Huynh","sequence":"additional","affiliation":[{"name":"Department of Neurology Children Hospital 2 Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5013-7011","authenticated-orcid":false,"given":"Thi Thu","family":"Hang Do","sequence":"additional","affiliation":[{"name":"Research Center for Genetics and Reproductive Health, School of Medicine Vietnam National University HCMC Ho Chi Minh City Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000291"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/320609"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02994.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.003"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature12439"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1004772"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-63326-2.00003-X"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2012.06.013"},{"issue":"1","key":"e_1_2_6_13_1","first-page":"151","article-title":"Possible Pathogenesis of severe myoclonic epilepsy in infancy: A novel nonsense mutation of GABRG2 leading to aggregation of GABAA receptors in neurons","volume":"9","author":"Kanaumi T.","year":"2004","journal-title":"Neurology Asia"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2016.0449"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02642.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_6_18_1","doi-asserted-by":"crossref","unstructured":"MacdonaldRL KangJQ GallagherMJ.2012. 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