{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T22:58:49Z","timestamp":1769554729759,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["22K19494"],"award-info":[{"award-number":["22K19494"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>WOREE syndrome is an early infantile epileptic encephalopathy characterized by drug\u2010resistant seizures and severe psychomotor developmental delays. We report a case of a WWOX splice\u2010site mutation with uniparental isodisomy. A 1\u2010year and 7\u2010month\u2010old girl presented with nystagmus and epileptic seizures from early infancy, with no fixation or pursuit of vision. Physical examination revealed small deformities, such as swelling of both cheeks, folded fingers, rocking feet, and scoliosis. Brain imaging revealed slight hypoplasia of the cerebrum. Electroencephalogram showed focal paroxysmal discharges during the interictal phase of seizures. Vitamin B6 and zonisamide were administered for early infantile epileptic encephalopathy; however, the seizures were not relieved. Despite altering the type and dosage of antiepileptic drugs and ACTH therapy, the seizures were intractable. Whole\u2010exome analysis revealed the homozygosity of <jats:italic>WWOX<\/jats:italic>(NM_016373.4):c.516+1G&gt;A. The WWOX mRNA sequencing using peripheral blood RNA confirmed that exon 5 was homozygously deleted. Based on these results, the patient was diagnosed with WOREE syndrome at 5\u2009months. The <jats:italic>WWOX<\/jats:italic> variant found in this study is novel and has never been reported before. WOREE syndrome being extremely rare, further case series and analyses of its pathophysiology are warranted.<\/jats:p>","DOI":"10.1002\/ajmg.a.63575","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T11:44:18Z","timestamp":1708947858000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification of a novel splice\u2010site <i>WWOX<\/i> variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy"],"prefix":"10.1002","volume":"194","author":[{"given":"Megumi","family":"Nishino","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mai","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2512-6043","authenticated-orcid":false,"given":"Kazuo","family":"Imagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Ibaraki Japan"},{"name":"Department of Child Health Institute of Medicine, University of Tsukuba  Tsukuba Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuyuki","family":"Yaita","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Ibaraki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Enokizono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Ibaraki 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