{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T15:03:48Z","timestamp":1789139028028,"version":"build-2803163510"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,12,13]],"date-time":"2023-12-13T00:00:00Z","timestamp":1702425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    <jats:bold>Background:<\/jats:bold>\n                    <jats:italic>MYRF<\/jats:italic>\n                    -related mild encephalopathy with reversible myelin vacuolization (MMERV) is an inherited neurological disorder characterized by dysfunction in the central nervous system and widespread reversible leukoencephalopathy. This paper presents a confirmed case of familial MMERV and summarizes pertinent features to offer guidance for future diagnosis and treatment of MMERV.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Case Introduction:<\/jats:bold>\n                    We have diagnosed a case of MMERV based on a history of seizures during early childhood and recurrent speech fluency issues in adulthood, reversible abnormal intensities in bilateral white matter in the centrum semiovale and corpus callosum, and the identification of myelin regulatory factor (\n                    <jats:italic>MYRF<\/jats:italic>\n                    ) heterozygous variants.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusion:<\/jats:bold>\n                    <jats:italic>MYRF<\/jats:italic>\n                    -related mild encephalopathy with reversible myelin vacuolization is a rare autosomal dominant genetic disease, with early clinical manifestations often being seizures. The definitive diagnosis of MMERV can be confirmed through genetic analysis. Minimizing infections can help reduce disease recurrence. However, future research should explore the impact of\n                    <jats:italic>MYRF<\/jats:italic>\n                    heterozygous variants in the wider MMERV population.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2023.1284060","type":"journal-article","created":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T23:44:33Z","timestamp":1702424673000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["MYRF-related mild encephalopathy with reversible myelin vacuolization: a case report and literature review"],"prefix":"10.3389","volume":"14","author":[{"given":"Shumei","family":"Yao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiufeng","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changjiang","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanqiang","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,12,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.cell.2009.04.031","article-title":"Myelin gene regulatory factor is a critical transcriptional regulator required for CNS myelination","volume":"138","author":"Emery","year":"2009","journal-title":"Cell"},{"key":"B2","doi-asserted-by":"publisher","first-page":"100612","DOI":"10.1016\/j.jbc.2021.100612","article-title":"Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects","volume":"296","author":"Fan","year":"2021","journal-title":"J. Biol. Chem."},{"key":"B3","doi-asserted-by":"publisher","first-page":"e1008130","DOI":"10.1371\/journal.pgen.1008130","article-title":"Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice","volume":"15","author":"Garnai","year":"2019","journal-title":"PLoS Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1007\/s10048-021-00650-9","article-title":"Revisiting the pathogenic mechanism of the GJB1 5\u2019 UTR c.-103C > T mutation causing CMTX1","volume":"22","author":"Grosz","year":"2021","journal-title":"Neurogenetics"},{"key":"B5","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/j.jns.2009.12.004","article-title":"Sisters with clinically mild encephalopathy with a reversible splenial lesion (MERS)-like features; Familial MERS?","volume":"290","author":"Imamura","year":"2010","journal-title":"J. Neurological Sci."},{"key":"B6","doi-asserted-by":"publisher","first-page":"12528","DOI":"10.1523\/JNEUROSCI.1069-12.2012","article-title":"Myelin gene regulatory factor is required for maintenance of myelin and mature oligodendrocyte identity in the adult CNS","volume":"32","author":"Koenning","year":"2012","journal-title":"J. Neurosci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ijid.2022.09.009","article-title":"Non-severe COVID-19 complicated by cytotoxic lesions of the corpus callosum (mild encephalitis\/encephalopathy with a reversible splenial lesion): a case report and literature review","volume":"125","author":"Kubo","year":"2022","journal-title":"Int. J. Infect. Dis."},{"key":"B8","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/ana.25125","article-title":"MYRF is associated with encephalopathy with reversible myelin vacuolization","volume":"83","author":"Kurahashi","year":"2018","journal-title":"Ann. Neurology"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1119708","DOI":"10.3389\/fnins.2023.1119708","article-title":"Genetic and environmental risk factors of acute infection-triggered encephalopathy","volume":"17","author":"Mizuguchi","year":"2023","journal-title":"Front. Neurosci."},{"key":"B10","doi-asserted-by":"publisher","first-page":"958570","DOI":"10.3389\/fgene.2022.958570","article-title":"Genetic heterogeneity in corpus callosum agenesis","volume":"13","author":"P\u00e2nzaru","year":"2022","journal-title":"Front. Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","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 for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"B12","doi-asserted-by":"publisher","first-page":"971432","DOI":"10.3389\/fped.2022.971432","article-title":"Case report: mild encephalitis with a reversible splenial lesion associated with SARS-CoV-2 infection in a patient with MYRF variant","volume":"10","author":"Saito","year":"2022","journal-title":"Front. Pediatr."},{"key":"B13","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1016\/j.jns.2010.02.013","article-title":"Differences in the time course of splenial and white matter lesions in clinically mild encephalitis\/encephalopathy with a reversible splenial lesion (MERS)","volume":"292","author":"Takanashi","year":"2010","journal-title":"J. Neurological Sci."},{"key":"B14","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1002\/acn3.347","article-title":"Clinical and biophysical characterization of 19 GJB1 mutations","volume":"3","author":"Tsai","year":"2016","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"B15","doi-asserted-by":"publisher","first-page":"2194","DOI":"10.3390\/cimb44050149","article-title":"A glance at the molecules that regulate oligodendrocyte myelination","volume":"44","author":"Wang","year":"2022","journal-title":"Curr. Issues Mol. Biol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1186\/s12887-021-03097-x","article-title":"Clinical study of recurrent mild encephalitis\/encephalopathy with a reversible splenial lesion in two cases","volume":"22","author":"Xue","year":"2022","journal-title":"BMC Pediatr."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1284060\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,12,12]],"date-time":"2023-12-12T23:44:34Z","timestamp":1702424674000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2023.1284060\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,13]]},"references-count":16,"alternative-id":["10.3389\/fgene.2023.1284060"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2023.1284060","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,13]]},"article-number":"1284060"}}