{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T04:27:36Z","timestamp":1786422456104,"version":"build-2736575974"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T00:00:00Z","timestamp":1781222400000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"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":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,6]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Neurodevelopmental disorders were a wide range of cognitive and behavioural disorders. Its pathogenic genes, transduction beta like 1 X\u2010linked receptor 1 (\n TBL1XR1<\/jats:italic>\n ), had been a hot research topic recently. However, reports involving treatment and long\u2010term follow\u2010up were still limited.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Exome sequencing of the family was performed. The clinical data and genetic variants, treatment and long\u2010term follow\u2010up were summarized. Moreover, treatment of published cases was also summarized to systematically understand its treatment strategies.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Genetic screening revealed a de novo variant of\n TBL1XR1<\/jats:italic>\n [NM_024665.7: c.1372_1387dup, p.Asp463Glyfs*6]. The variant was a 16\u2010bp nucleotide duplication in exon 14, caused a conversion of the aspartic amino acids to glycine amino acids at the 463rd and finally generated a stop codon 6 amino acids after the 462nd amino acids. It was classified as a variant of pathogenic (P) according to the ACMG (American College of Medical Genetics and Genomics) guidelines. Valproic acid was administered up to 20\u2009mg\/kg\/day, which resulted in satisfactory seizure control. Long\u2010term follow\u2010up confirmed the complete disappearance of seizures at 5 and 6\u2009months of age, although hyperactivity, attention deficit and global developmental delay persisted.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Our results expanded the pathogenic variant spectrum and treatment of\n TBL1XR1<\/jats:italic>\n \u2010related neurodevelopmental disorders.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jdn.70148","type":"journal-article","created":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T08:31:34Z","timestamp":1781253094000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel De Novo Frameshift Variant of\n TBL1XR1<\/i>\n Leads to Neurodevelopmental Disorders and Treatment Experience"],"prefix":"10.1002","volume":"86","author":[{"given":"Fangfang","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Neurology Jiangxi Provincial Children's Hospital Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihua","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology Jiangxi Provincial Children's Hospital Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology Jiangxi Provincial Children's Hospital Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Xiong","sequence":"additional","affiliation":[{"name":"Department of Neurology Jiangxi Provincial Children's Hospital Nanchang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6967-3698","authenticated-orcid":false,"given":"Jian","family":"Zha","sequence":"additional","affiliation":[{"name":"Department of Neurology Jiangxi Provincial Children's Hospital Nanchang 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