{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T23:07:10Z","timestamp":1769641630770,"version":"3.49.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:00:00Z","timestamp":1768867200000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    GABA\u2010transaminase (GABA\u2010T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the\n                    <jats:italic>ABAT<\/jats:italic>\n                    gene. We report a case of a newborn female born to a G10P5 mother, with abnormal fetal movements and polyhydramnios in utero. At birth, she presented with hypotonia, hypersomnolence, decreased level of consciousness, central hypoventilation, non\u2010epileptic myoclonus, seizures, and neurogenic diabetes insipidus. Brain MRI on day two of life showed partial cerebellar vermis agenesis and cerebellar hemispheric dysplasia. Her EEG demonstrated burst suppression. Family history was significant for two siblings with a similar neonatal course. On rapid whole exome sequencing she was found to be homozygous for a nonsense variant in the\n                    <jats:italic>ABAT<\/jats:italic>\n                    gene designated c.1278C&gt;A, p.Tyr426*. Both of her affected siblings were also found to be homozygous for the same variant, and carrier status was confirmed in both parents. A trial of flumazenil infusion showed subtle EEG improvement. Our report of three siblings with severe GABA\u2010T deficiency provides evidence for founder effect in the Canadian Indigenous population and discusses the utility of urine GABA quantification as a reasonable screening test.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70069","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T07:26:02Z","timestamp":1768980362000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Additional Cases of Severe Neonatal\n                    <scp>GABA<\/scp>\n                    \u2010Transaminase Deficiency"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4463-5764","authenticated-orcid":false,"given":"Deima","family":"Alammary","sequence":"first","affiliation":[{"name":"Sections of Neonatology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9498-3703","authenticated-orcid":false,"given":"Tisiana","family":"Low","sequence":"additional","affiliation":[{"name":"Genetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganesh","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Sections of Neonatology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Claude","family":"Dery","sequence":"additional","affiliation":[{"name":"Clinical Biochemistry Diagnostic Services, Shared Health  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"Almutadares","sequence":"additional","affiliation":[{"name":"Genetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"},{"name":"Department of Genetic Medicine, Faculty of Medicine King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Marin","sequence":"additional","affiliation":[{"name":"Neurology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mubeen F.","family":"Rafay","sequence":"additional","affiliation":[{"name":"Neurology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katya","family":"Rozovsky","sequence":"additional","affiliation":[{"name":"Diagnostic Imaging, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Frosk","sequence":"additional","affiliation":[{"name":"Genetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba  Winnipeg Manitoba Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003936"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B0-12-227210-2\/00150-3"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052362"},{"key":"e_1_2_10_5_1","first-page":"13","article-title":"Metabolomics Profile in ABAT Deficiency Pre\u2010 and Post\u2010Treatment","volume":"43","author":"Koenig M. K.","year":"2019","journal-title":"JIMD Rep"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2015.02.008"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-102822-100509"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13041-016-0273-8"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9022-9"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2016.08.005"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2019.00394"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/ALN.0000000000001134"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818823359"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70069","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.70069","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.70069","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:01:01Z","timestamp":1769601661000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.70069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/jmd2.70069"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.70069","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-05-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70069"}}