{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T17:22:52Z","timestamp":1793380972780,"version":"4.5.0"},"reference-count":28,"publisher":"Spandidos Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomed Rep"],"DOI":"10.3892\/br.2025.1945","type":"journal-article","created":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T13:26:36Z","timestamp":1739539596000},"source":"Crossref","is-referenced-by-count":2,"title":["Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (<i>SEPSECS<\/i> mutation)"],"prefix":"10.3892","volume":"22","author":[{"given":"Fabio","family":"Pettinato","sequence":"first","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viviana","family":"Marz\u00e0","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Ciantia","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Romanello","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Cocuzza","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Fichera","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Barone","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neurology and Psychiatric Section, Azienda Ospedaliera Universitaria Policlinico \u2018G.Rodolico\u2011San Marco\u2019, Department of Clinical and Experimental Medicine, University of Catania, I-95124 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2025,2,14]]},"reference":[{"issue":"51","key":"key20250314123433_b1-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-024-01810-0","article-title":"Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review","volume":"17","author":"Ghasemi","year":"2024","journal-title":"BMC Med Genomics"},{"key":"key20250314123433_b2-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s12011-014-9920-z","article-title":"Cerebellar hypoplasia in mice lacking selenoprotein biosynthesis in neurons","volume":"158","author":"Wirth","year":"2014","journal-title":"Biol Trace Elem Res"},{"key":"key20250314123433_b3-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1042\/BJ20090219","article-title":"Regulation and function of selenoproteins in human disease","volume":"422","author":"Bellinger","year":"2009","journal-title":"Biochem J"},{"issue":"e96","key":"key20250314123433_b4-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.e96","article-title":"Progressive cerebellocerebral atrophy: A new syndrome with microcephaly, mental retardation, and spastic quadriplegia","volume":"40","author":"Ben-Zeev","year":"2003","journal-title":"J Med Genet"},{"key":"key20250314123433_b5-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1016\/j.ajhg.2010.09.007","article-title":"Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy","volume":"87","author":"Agamy","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key20250314123433_b6-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1002\/humu.22617","article-title":"Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families","volume":"35","author":"Makrythanasis","year":"2014","journal-title":"Hum Mutat"},{"key":"key20250314123433_b7-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","article-title":"Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families","volume":"10","author":"Alazami","year":"2015","journal-title":"Cell Rep"},{"key":"key20250314123433_b8-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1212\/WNL.0000000000001787","article-title":"Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate","volume":"85","author":"Anttonen","year":"2015","journal-title":"Neurology"},{"key":"key20250314123433_b9-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1038\/gim.2014.191","article-title":"Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios","volume":"17","author":"Zhu","year":"2015","journal-title":"Genet Med"},{"key":"key20250314123433_b10-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1038\/jhg.2016.9","article-title":"Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations","volume":"61","author":"Iwama","year":"2016","journal-title":"J Hum Genet"},{"key":"key20250314123433_b11-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/j.ejpn.2015.12.016","article-title":"Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency","volume":"20","author":"Pavlidou","year":"2016","journal-title":"Eur J Paediatr Neurol"},{"key":"key20250314123433_b12-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1002\/ana.24883","article-title":"Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression","volume":"81","author":"Olson","year":"2017","journal-title":"Ann Neurol"},{"key":"key20250314123433_b13-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"897","DOI":"10.1007\/s10545-018-0151-x","article-title":"A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia","volume":"41","author":"van Dijk","year":"2018","journal-title":"J Inherit Metab Dis"},{"key":"key20250314123433_b14-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"1034","DOI":"10.1038\/s41431-020-0609-9","article-title":"First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery","volume":"28","author":"Hengel","year":"2020","journal-title":"Eur J Hum Genet"},{"key":"key20250314123433_b15-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.medcli.2019.10.005","article-title":"A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D","volume":"156","author":"Arrudi-Moreno","year":"2021","journal-title":"Med Clin (Barc)"},{"issue":"e661","key":"key20250314123433_b16-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000661","article-title":"Novel SEPSECS pathogenic variants featuring unusual phenotype of complex movement disorder with thin corpus callosum: A case report","volume":"8","author":"Nicita","year":"2021","journal-title":"Neurol Genet"},{"key":"key20250314123433_b17-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.nrleng.2022.01.002","article-title":"Bringing light into the darkness: Autosomal recessive cerebellar ataxia due to a recessive mutation in the SEPSECS gene","volume":"37","author":"Mart\u00ednez-Mart\u00edn","year":"2022","journal-title":"Neurologia (Engl Ed)"},{"issue":"a006165","key":"key20250314123433_b18-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a006165","article-title":"Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease","volume":"8","author":"Ramadesikan","year":"2022","journal-title":"Cold Spring Harb Mol Case Stud"},{"issue":"805575","key":"key20250314123433_b19-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.805575","article-title":"Case Report: A relatively mild phenotype produced by novel mutations in the SEPSECS Gene","volume":"9","author":"Rong","year":"2022","journal-title":"Front Pediatr"},{"key":"key20250314123433_b20-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"e912","DOI":"10.1212\/WNL.0000000000013278","article-title":"Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization","volume":"98","author":"Schl\u00fcter","year":"2022","journal-title":"Neurology"},{"key":"key20250314123433_b21-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"938","DOI":"10.1007\/s12311-022-01470-9","article-title":"Analysis of the Clinical Features and Imaging Findings of Pontocerebellar Hypoplasia Type 2D Caused by Mutations in SEPSECS Gene","volume":"22","author":"Zhao","year":"2023","journal-title":"Cerebellum"},{"issue":"636","key":"key20250314123433_b22-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2018.00636","article-title":"A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses","volume":"9","author":"Barone","year":"2018","journal-title":"Front Psychiatry"},{"key":"key20250314123433_b23-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1023\/a:1005351927573","article-title":"Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)","volume":"21","author":"Barone","year":"1998","journal-title":"J Inherit Metab Dis"},{"key":"key20250314123433_b24-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"ACMG Laboratory Quality Assurance Committee. 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 for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"key20250314123433_b25-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.redox.2013.12.011","article-title":"Redox regulation of mitochondrial function with emphasis on cysteine oxidation reactions","volume":"2","author":"Mailloux","year":"2013","journal-title":"Redox Biol"},{"issue":"32563","key":"key20250314123433_b26-BR-22-4-01945","doi-asserted-by":"publisher","DOI":"10.1038\/srep32563","article-title":"Structural basis for early-onset neurological disorders caused by mutations in human selenocysteine synthase","volume":"6","author":"Puppala","year":"2016","journal-title":"Sci Rep"},{"key":"key20250314123433_b27-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s40142-018-0138-9","article-title":"Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies","volume":"6","author":"Muraresku","year":"2018","journal-title":"Curr Genet Med Rep"},{"key":"key20250314123433_b28-BR-22-4-01945","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1007\/s11064-017-2288-7","article-title":"L-Carnitine and Acetyl-L-carnitine Roles and Neuroprotection in Developing Brain","volume":"42","author":"Ferreira","year":"2017","journal-title":"Neurochem Res"}],"container-title":["Biomedical Reports"],"original-title":[],"deposited":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T10:34:41Z","timestamp":1741948481000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/br.2025.1945"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,14]]},"references-count":28,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2025,2,14]]}},"URL":"https:\/\/doi.org\/10.3892\/br.2025.1945","relation":{},"ISSN":["2049-9434","2049-9442"],"issn-type":[{"value":"2049-9434","type":"print"},{"value":"2049-9442","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2,14]]},"article-number":"67"}}