{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T18:35:25Z","timestamp":1773081325361,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,1,25]],"date-time":"2016-01-25T00:00:00Z","timestamp":1453680000000},"content-version":"vor","delay-in-days":55,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>WDR45<\/jats:italic> mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal\u2010onset seizure at three months of age and was subsequently noted to have psychomotor delay. At 11 months of age, she developed epileptic spasms. Her EEG showed hypsarrhythmia. An extensive neurogenetic workup and brain MRI, revealing normal data, ruled out other detectable causes of epileptic spasms. Whole\u2010exome sequencing revealed a <jats:italic>de novo<\/jats:italic>, heterozygous deleterious mutation c.400C&gt;T (p.R13X) in <jats:italic>WDR45<\/jats:italic>, previously reported to be disease\u2010causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. We conclude that <jats:italic>WDR45<\/jats:italic> mutations should be considered as a possible aetiology in infants with early\u2010onset focal seizures and\/or in otherwise undiagnosed cases of epileptic spasms.<\/jats:p>","DOI":"10.1684\/epd.2015.0784","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"467-472","source":"Crossref","is-referenced-by-count":11,"title":["Epileptic spasms: a previously unreported manifestation of <i>WDR45<\/i> gene mutation"],"prefix":"10.1002","volume":"17","author":[{"given":"Kathryn I","family":"Xixis","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Medical Center Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamad A","family":"Mikati","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Medical Center Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.019"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-410502-7.00005-3"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt095"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awt098"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.5.780"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu199"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2012.11.009"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25868"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2562"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2013.11.019"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2015.0784","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:25:38Z","timestamp":1710779138000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2015.0784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1684\/epd.2015.0784"],"URL":"https:\/\/doi.org\/10.1684\/epd.2015.0784","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12]]}}}