{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T07:40:39Z","timestamp":1776325239604,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T00:00:00Z","timestamp":1766793600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T00:00:00Z","timestamp":1766793600000},"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":["Epileptic Disorders"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To summarize the electro\u2010clinical and genetic characteristics of children with Mowat\u2013Wilson syndrome (MWS).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study is a hospital\u2010based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024. Information on seizures, electroencephalographic features, genetic characteristics, treatment, and prognosis was summarized and analyzed using descriptive statistics.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the 31 children (16 males and 15 females), seizure onset occurred at a median age of 25.5\u2009months (range: 1\u2013113\u2009months). Eighteen cases (58.1%, 18\/31) began with fever\u2010induced seizures; all 31 children experienced focal seizures, and 16 (51.6%, 16\/31) exhibited atypical seizure presentations. Twelve (38.7%, 12\/31) experienced seizures accompanied by gastrointestinal (GI) symptoms. Two children had myoclonic seizures, one had epileptic spasms, and another had atypical absence seizures. Ten (32.3%, 10\/31) experienced convulsive status epilepticus. Electroencephalographic findings evolved from posterior head\u2013dominant discharges to multifocal or anterior head\u2013dominant discharges, with a significant increase in discharges during sleep. All 31 children had de novo\n                      <jats:italic>ZEB2<\/jats:italic>\n                      variants, including 27 with single\u2010nucleotide variants (SNVs) or insertions\/deletions (indels) and four with copy number variants. Among the SNVs\/indels, nonsense (13) and frameshift (12) variants predominated. One patient with rare seizures did not receive anti\u2010seizure medication (ASM). Thirty received ASMs; both levetiracetam and valproic acid, used as monotherapy or in combination, proved effective. Sixteen children achieved seizure control for more than 6\u2009months, and seven maintained seizure control for over 1\u2009year.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Our findings reveal the electro\u2010clinical characteristics, genetic variants, and effective treatments associated with MWS, providing an important basis for clinical diagnosis and management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epd2.70149","type":"journal-article","created":{"date-parts":[[2025,12,27]],"date-time":"2025-12-27T12:40:21Z","timestamp":1766839221000},"page":"344-358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Electro\u2010clinical features of Mowat\u2013Wilson syndrome: A retrospective study of 31 children in mainland China"],"prefix":"10.1002","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-1674-4204","authenticated-orcid":false,"given":"Yi","family":"Ju","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao\u2010yun","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,27]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt114"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35717"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2017.04.013"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12070982"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13671"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.221"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.5.305"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26031307"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.01.003"},{"issue":"6","key":"e_1_2_12_13_1","first-page":"578","article-title":"Clinical features of epilepsy in 5 children with Mowat\u2010Wilson syndrome","volume":"60","author":"Yi J","year":"2022","journal-title":"Chin J Pediatr"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pneurobio.2015.07.001"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2018.09.034"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.8.617"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25052838"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63922"},{"issue":"11","key":"e_1_2_12_19_1","first-page":"1621","article-title":"A clinical and genetic study of 5 cases of Mowat\u2010Wilson syndrome","volume":"50","author":"Qian J","year":"2019","journal-title":"J Shanxi Med 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