{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T20:42:19Z","timestamp":1780605739553,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T00:00:00Z","timestamp":1753056000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Background: The ADP\u2010ribosylation factor 1 (<jats:italic>ARF1<\/jats:italic>) gene encodes a protein which plays a critical role in intra\u2010Golgi transport. Clinical evidence suggests that individuals harbouring variants in the <jats:italic>ARF1<\/jats:italic> gene display a consistent set of phenotypic features, including intellectual disability, microcephaly, epilepsy, and periventricular nodular heterotopia (PVNH). Methods: This study describes the case of a 6\u2010year and 5\u2010month\u2010old female presenting with focal seizures on a fixed side that were resistant to various anti\u2010seizure medications. The genetic aetiology was elucidated through exome sequencing of the pedigree. The pathogenicity of the identified variant was subsequently assessed using molecular dynamics structural analysis, western blotting, and co\u2010immunoprecipitation techniques. Results: A <jats:italic>de novo<\/jats:italic> variant, c.509T &gt; C (p.Leu170Pro), was detected in the <jats:italic>ARF1<\/jats:italic> gene, and functional analysis demonstrated that this modification is anticipated to hinder its association with the Golgi\u2010localising, \u03b3\u2010adaptin ear homology domain and ARF\u2010binding protein, thereby playing a role in the pathogenesis of the disease. Conclusion: This study introduces the initial instance of <jats:italic>ARF1<\/jats:italic>\u2010related disease in China, wherein the patient is without the presence of PVNH. The findings add novel clinical phenotypes to the range of <jats:italic>ARF1<\/jats:italic>\u2010related diseases, and an investigation into the potential pathogenic mechanisms of this condition was conducted by confirming the deleterious impacts of the variant.<\/jats:p>","DOI":"10.1111\/jcmm.70655","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T13:08:59Z","timestamp":1753103339000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>ARF1<\/i><\/scp>\u2010Related Diseases in China: The Initial Study of Phenotype and Molecular Profile"],"prefix":"10.1111","volume":"29","author":[{"given":"Ruofei","family":"Lian","sequence":"first","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou 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