{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T06:24:37Z","timestamp":1785911077977,"version":"3.56.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":57,"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":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A child with a <jats:italic>de novo STXBP1<\/jats:italic> heterozygous missense mutation, believed to be a pathogenic variant, presented with clustering focal seizures affecting both hemispheres. These had begun at the age of 10 months with a phenotype similar to that of PCDH19 encephalopathy. MRI suggested a similarity to focal cortical dysplasia, though further research is needed. There was no evidence of either suppression\u2010bursts or infantile spasms. This new case adds to the few other cases of patients with S<jats:italic>TXBP1<\/jats:italic> mutation in whom imaging features of focal cortical dysplasia on MRI have been reported, implying a possible role of S<jats:italic>TXBP1<\/jats:italic> mutation in neuronal migration disorders. If such a mutation with focal seizures is suspected, the possibility of focal cortical dysplasia should be investigated. [<jats:italic>Published with video sequences<\/jats:italic>].<\/jats:p>","DOI":"10.1684\/epd.2021.1245","type":"journal-article","created":{"date-parts":[[2021,3,15]],"date-time":"2021-03-15T13:11:02Z","timestamp":1615813862000},"page":"143-147","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["<i>STXBP1<\/i> germline mutation and focal cortical dysplasia"],"prefix":"10.1002","volume":"23","author":[{"given":"Artem","family":"Sharkov","sequence":"first","affiliation":[{"name":"Veltischev Research and Clinical Institute for Pediatrics of the Pirogov RNRMU"},{"name":"Genomed Ltd.  Moscow Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Dulac","sequence":"additional","affiliation":[{"name":"AdPueriVitam  Antony France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Gataullina","sequence":"additional","affiliation":[{"name":"Service d'explorations fonctionnelles, Sleep Disorders Center Antoine B\u00e9cl\u00e8re Hospital, AP\u2010HP  Clamart France"},{"name":"Service de P\u00e9diatrie, H\u00f4pital Andr\u00e9 Gr\u00e9goire Centre Hospitalier Intercommunal  Montreuil France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,3,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12124"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000199"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp215"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.118.200080"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00392-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13214"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2018.06.010"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2012.03649.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000291"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14152"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14728222.2017.1386175"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2018.01.071"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-017-0498-5"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fncel.2013.00060"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.13595"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2018.1009"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2021.1245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:31:48Z","timestamp":1710779508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2021.1245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1684\/epd.2021.1245"],"URL":"https:\/\/doi.org\/10.1684\/epd.2021.1245","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"2019-07-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}