{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:42:06Z","timestamp":1764103326873},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,8,25]],"date-time":"2022-08-25T00:00:00Z","timestamp":1661385600000},"content-version":"vor","delay-in-days":24,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold><jats:italic>Objective<\/jats:italic><\/jats:bold>. Epileptic encephalopathy (EE) is difficult to diagnose and manage. It can be caused by a variety of disorders, and its aetiology may guide management and prognosis. The human gene for WW domain\u2010containing oxidoreductase (<jats:italic>WWOX<\/jats:italic>) has been associated with epileptic encephalopathy, which presents in infancy with seizures, psychomotor delay, microcephaly, and optic atrophy.<\/jats:p><jats:p><jats:bold><jats:italic>Methods<\/jats:italic><\/jats:bold>. We report nine patients with <jats:italic>WWOX\u2010<\/jats:italic>related EE from six families. We provide detailed descriptions of clinical presentations, imaging findings, neurophysiological manifestations, and related mutations. Whole\u2010exome sequencing (WES) was used to identify the mutations in the <jats:italic>WWOX<\/jats:italic> gene.<\/jats:p><jats:p><jats:bold><jats:italic>Results<\/jats:italic><\/jats:bold>. We established correlations between genotype and phenotype in our cases and previously reported cases.<\/jats:p><jats:p><jats:bold><jats:italic>Significance<\/jats:italic><\/jats:bold>. Our data support previously reported findings regarding <jats:italic>WWOX<\/jats:italic>\u2010related EE, indicating the importance of the human <jats:italic>WWOX<\/jats:italic> gene in brain development and the association between <jats:italic>WWOX<\/jats:italic> mutations and EE. Our study also highlights the power of WES, particularly in clinically challenging cases.<\/jats:p>","DOI":"10.1684\/epd.2022.1444","type":"journal-article","created":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T14:18:38Z","timestamp":1657117118000},"page":"697-712","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Epilepsy in patients with <i>WWOX<\/i>\u2010related epileptic encephalopathy (WOREE) syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Raidah","family":"Al Baradie","sequence":"first","affiliation":[{"name":"Department of Pediatric Neurology King Fahad Specialist Hospital Dammam Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Mir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology King Fahad Specialist Hospital Dammam Saudi 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