{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:19:25Z","timestamp":1759331965458,"version":"3.40.5"},"reference-count":8,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,9]],"date-time":"2021-01-09T00:00:00Z","timestamp":1610150400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post\u2010mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis of a rare neurometabolic disorder in one of the babies in the family and eventual genetic counselling of the family. The family has been offered pre\u2010implantation genetic diagnosis for future pregnancies. This case reporting has been approved by the hospital research and ethical committee.<\/jats:p>","DOI":"10.1002\/ccr3.3753","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T23:29:11Z","timestamp":1610666951000},"page":"1295-1298","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["GABA transaminase deficiency. Case report and literature review"],"prefix":"10.1002","volume":"9","author":[{"given":"Amira","family":"Oshi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Alfaifi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed Z.","family":"Seidahmed","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Al Hussein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abeer","family":"Miqdad","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdelmohsin","family":"Samadi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7583-3598","authenticated-orcid":false,"given":"Omar","family":"Abdelbasit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Security Forces Hospital  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,9]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12668"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052362"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005500122231"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003936"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.02.008"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1740925X11000093"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-020-00550-1"},{"issue":"405","key":"e_1_2_8_9_1","first-page":"424","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association of Molecular Pathology","volume":"17","author":"Richards S","year":"2015","journal-title":"Genet Med"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.3753","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.3753","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.3753","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T03:47:17Z","timestamp":1693626437000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.3753"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,9]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/ccr3.3753"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.3753","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2021,1,9]]},"assertion":[{"value":"2020-07-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-17","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-09","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}