{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T08:54:55Z","timestamp":1782896095938,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T00:00:00Z","timestamp":1509408000000},"content-version":"vor","delay-in-days":60,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The WW domain\u2010containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early\u2010infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early\u2010onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly. Metabolic disease was excluded. Whole\u2010exome sequencing showed mutations in the WW domain\u2010containing oxidoreductase gene. Our findings extend the phenotypic traits of this aggressive epileptic encephalopathy, with persistent epileptic spasms and hypsarhythmia as a part of the electroclinical phenotype, demonstrating that microcephaly is not mandatory for diagnosis, even when associated with progressive cerebral atrophy. These mutations might be more frequent than expected among early\u2010onset epileptic encephalopathies. We present practical clues for the diagnosis of WWOX encephalopathy in order to avoid unnecessary investigations and ensure appropriate genetic counselling for the families.<\/jats:p>","DOI":"10.1684\/epd.2017.0924","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"357-361","source":"Crossref","is-referenced-by-count":14,"title":["Practical clues for diagnosing WWOX encephalopathy"],"prefix":"10.1002","volume":"19","author":[{"given":"Oana","family":"Tarta\u2010Arsene","sequence":"first","affiliation":[{"name":"\u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital Pediatric Neurology Bucharest"},{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy Pediatric Neurology Discipline Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Barca","sequence":"additional","affiliation":[{"name":"\u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital Pediatric Neurology Bucharest"},{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy Pediatric Neurology Discipline Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dana","family":"Craiu","sequence":"additional","affiliation":[{"name":"\u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital Pediatric Neurology Bucharest"},{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy Pediatric Neurology Discipline Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catrinel","family":"Iliescu","sequence":"additional","affiliation":[{"name":"\u201cProf. Dr. Alexandru Obregia\u201d Clinical Hospital Pediatric Neurology Bucharest"},{"name":"\u201cCarol Davila\u201d University of Medicine and Pharmacy Pediatric Neurology Discipline Bucharest Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,10,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-12"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbcan.2014.06.001"},{"key":"e_1_2_6_4_1","first-page":"2140","article-title":"WWOX, a novel WW domain\u2010containing protein mapping to human chromosome 16q23.3\u201024.1, a region frequently affected in breast cancer","volume":"60","author":"Bednarek A.K.","year":"2000","journal-title":"Cancer Res"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-014-0463-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08768"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm078"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt338"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102748"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.11.1651"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2009.00502.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37363"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.17"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/cdd.2011.188"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2760"},{"key":"e_1_2_6_16_1","first-page":"121","article-title":"WWOX\u2010mediated apopotosis in A549 cells mainly involves the mitochondrial pathway","volume":"6","author":"Zhang P.","year":"2012","journal-title":"Mol Med Rep"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2017.0924","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:39:33Z","timestamp":1710779973000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2017.0924"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,9]]}},"alternative-id":["10.1684\/epd.2017.0924"],"URL":"https:\/\/doi.org\/10.1684\/epd.2017.0924","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,9]]}}}