{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T00:09:07Z","timestamp":1773014947770,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T00:00:00Z","timestamp":1757980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T00:00:00Z","timestamp":1757980800000},"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":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the Methyl\u2010CpG\u2010binding protein 2 (\n                    <jats:italic>MECP2<\/jats:italic>\n                    ) gene are associated with a spectrum of neurologic disorders, most commonly of which is Rett syndrome (RTT). As these mutations occur in germ cells, neurologic symptoms usually begin in early childhood. Seizures, a common feature of\n                    <jats:italic>MECP2<\/jats:italic>\n                    \u2010related disorders, often occur later in childhood or early adolescence. However, there has never been a documented case of progressive epilepsy and cognitive decline with onset in adulthood. Here, we present a novel case of a woman with normal developmental history who develops progressive drug\u2010resistant epilepsy at age 27. Whole\u2010exome sequencing revealed a loss\u2010of\u2010function mutation in the\n                    <jats:italic>MECP2<\/jats:italic>\n                    gene: c.1059_1190del132ins24 that has not been previously reported. This report expands the phenotypic spectrum of\n                    <jats:italic>MECP2<\/jats:italic>\n                    \u2010related epilepsy.\n                  <\/jats:p>","DOI":"10.1002\/epd2.70102","type":"journal-article","created":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T15:23:49Z","timestamp":1758036229000},"page":"1307-1311","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Adult\u2010onset drug\u2010resistant progressive epilepsy in a patient with novel\n                    <i>MECP2<\/i>\n                    mutation"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1075-9673","authenticated-orcid":false,"given":"Sophey","family":"Ho","sequence":"first","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8241-9574","authenticated-orcid":false,"given":"Constance","family":"Smith\u2010Hicks","sequence":"additional","affiliation":[{"name":"Department of Neurology and Developmental Medicine, Kennedy Krieger Institute Johns Hopkins University School of Medicine  Baltimore Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0661-4153","authenticated-orcid":false,"given":"Madeline C.","family":"Fields","sequence":"additional","affiliation":[{"name":"Department of Neurology Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22179610"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11920\u2010010\u20100097\u20107"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom11010075"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017\u2010014\u20108295\u20109"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4900\u201012.2014"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528\u20101167.2010.02597.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12030"},{"key":"e_1_2_8_9_1","volume-title":"X\u2010chromosome inactivation analysis [Internet]","author":"ARUP Consult"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045260"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1917"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00125\u2010013\u20103072\u20100"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2023.07.006"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70102","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epd2.70102","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70102","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T23:01:14Z","timestamp":1773010874000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.70102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,16]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/epd2.70102"],"URL":"https:\/\/doi.org\/10.1002\/epd2.70102","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,16]]},"assertion":[{"value":"2025-07-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}