{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T12:22:55Z","timestamp":1787660575522,"version":"build-2736575974"},"reference-count":18,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T00:00:00Z","timestamp":1786060800000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"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":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Muscle\u2010Eye\u2010Brain disease (MEB) is a rare autosomal recessive dystroglycanopathy caused by defective glycosylation of \u03b1\u2010dystroglycan, leading to a multisystem disorder involving the central nervous system, skeletal muscle, and eyes. It represents an important cause of developmental and epileptic encephalopathy, with variable clinical severity and genetic heterogeneity, most commonly associated with variants in the\n                      <jats:italic>POMGNT1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical, neurophysiological, neuroimaging, histopathological, and genetic investigations were performed, including targeted next\u2010generation sequencing for congenital muscular dystrophy\u2010associated genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The patient presented with early\u2010onset hypotonia, global developmental delay, progressive motor regression, intellectual disability, and ocular abnormalities. Epilepsy onset occurred in childhood and evolved into drug\u2010resistant epilepsy with status epilepticus in adulthood. Brain MRI revealed lissencephaly, ventriculomegaly, and brainstem and cerebellar hypoplasia. EEG demonstrated features consistent with epileptic encephalopathy. Genetic testing identified compound heterozygosity for the\n                      <jats:italic>POMGNT1<\/jats:italic>\n                      variants c.1282C&gt;T, p.(Gln428*) and c.793C&gt;T, p.(Arg265Cys). Seizure control was eventually achieved with polytherapy including four antiseizure medications.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This case expands the genotypic and phenotypic spectrum of\n                      <jats:italic>POMGNT1<\/jats:italic>\n                      \u2010related MEB, highlighting the potential for severe epilepsy and status epilepticus in adulthood. It also underscores the importance of long\u2010term clinical follow\u2010up and suggests that aggressive antiseizure treatment may achieve seizure control even in advanced stages of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70256","type":"journal-article","created":{"date-parts":[[2026,8,8]],"date-time":"2026-08-08T06:44:02Z","timestamp":1786171442000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Genotypic Spectrum of POMGNT1\u2010Related Muscle\u2010Eye\u2010Brain Disease: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"given":"Evripidis","family":"Pityrigkas","sequence":"first","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0147-3948","authenticated-orcid":false,"given":"Vasiliki","family":"Poulidou","sequence":"additional","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Kalampokini","sequence":"additional","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleni","family":"Liouta","sequence":"additional","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Pepe","sequence":"additional","affiliation":[{"name":"Genekor Medical S.A.  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Spilioti","sequence":"additional","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3335-3019","authenticated-orcid":false,"given":"Vasilios K.","family":"Kimiskidis","sequence":"additional","affiliation":[{"name":"First Department of Neurology, AHEPA University Hospital Aristotle University of Thessaloniki  Thessaloniki Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,7]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.02814"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010019\u20101470\u20102"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018\u2010012\u20101193\u20100"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0076\u20106879(10)79019\u20104"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201007349\u20108"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm212"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/epd2.70217"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222313162"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.0000000000001416"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1525545113"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0006\u2010291x(03)00924\u20100"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/418376a"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13886"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg043"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20172"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2022.07.008"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1534\u20105807(01)00070\u20103"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70256","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70256","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70256","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T11:40:04Z","timestamp":1787658004000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70256"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":18,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/mgg3.70256"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70256","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"2026-03-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70256"}}