{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,6,14]],"date-time":"2024-06-14T14:32:33Z","timestamp":1718375553972},"reference-count":15,"publisher":"Korean Epilepsy Society","issue":"2","content-domain":{"domain":["j-epilepsy.org"],"crossmark-restriction":true},"short-container-title":["J Epilepsy Res"],"abstract":"<jats:p>Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare, inherited neurometabolic disorder caused by mutations in the &lt;i&gt;SLC19A3&lt;\/i&gt; gene and characterized by recurrent sub-acute episodes of encephalopathy that are often triggered by infections. Patients with BTBGD have classical neuroimaging findings and a dramatic response to high doses of thiamine. Herein, we report a 2 and a half-year-old Saudi girl presented with an acute onset of ataxia, slurred speech, and dysphagia, which was preceded by a history of accidental ingestion of around 20 mL of ethyl alcohol that is used in formulating perfumes 1 day earlier. Her older brother had a similar clinical presentation and was diagnosed with BTBGD. The patient was fully alert and spoke in full sentences with dysarthria. She was unable to walk unassisted. Investigation revealed a positive toxicity test for ethyl alcohol (10 mg\/dL), and brain magnetic resonance imaging showed basal ganglia changes consistent with BTBGD. The dramatic response to high doses of thiamine suggested &lt;i&gt;SLC19A3&lt;\/i&gt; as a strong candidate gene, and Sanger sequencing revealed a homozygous (NM_025243.4): c.1264A&gt;G (p.Thr422Ala) mutation. Patients with BTBGD should be cautious and aware of ethyl alcohol products, which can lead to a BTBGD crisis. The administration of a high dose of thiamin may be required in patients who have not responded to the recommended dose. Further clinical research is required to determine the optimal doses.<\/jats:p>","DOI":"10.14581\/jer.23010","type":"journal-article","created":{"date-parts":[[2023,12,29]],"date-time":"2023-12-29T01:09:11Z","timestamp":1703812151000},"page":"59-62","update-policy":"http:\/\/dx.doi.org\/10.14581\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report"],"prefix":"10.14581","volume":"13","author":[{"given":"Abdullah Nasser","family":"Aldosari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Arisha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmed","family":"Ibrahim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Gongi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"5688","published-online":{"date-parts":[[2023,12,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50898"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38189"},{"key":"ref3","volume-title":"","author":"Tabarki","year":"2013"},{"key":"ref4","first-page":"683255","volume-title":"Report of the largest chinese cohort with  gene defect and literature review","author":"Wang","year":"2021"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.4103\/aian.aian_952_20"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.7.1267"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1177\/2329048x17730742"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12125"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/bf00315284"},{"key":"ref10","volume-title":"","author":"Laird","year":"2014"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcrc.2010.03.003"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9712-9"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv342"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/ajcn\/33.12.2750"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1056\/nejmc0809100"}],"container-title":["Journal of Epilepsy Research"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/j-epilepsy.org\/upload\/jer-23010.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/j-epilepsy.org\/journal\/view.php?doi=10.14581\/jer.23010","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/j-epilepsy.org\/upload\/jer-23010.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,4]],"date-time":"2024-01-04T04:21:53Z","timestamp":1704342113000},"score":1,"resource":{"primary":{"URL":"http:\/\/j-epilepsy.org\/journal\/view.php?doi=10.14581\/jer.23010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,31]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,12,28]]}},"URL":"https:\/\/doi.org\/10.14581\/jer.23010","relation":{},"ISSN":["2233-6249","2233-6257"],"issn-type":[{"value":"2233-6249","type":"print"},{"value":"2233-6257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,31]]},"assertion":[{"value":"2023-06-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}