{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:55:59Z","timestamp":1789516559411,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,12,15]],"date-time":"2023-12-15T00:00:00Z","timestamp":1702598400000},"content-version":"vor","delay-in-days":0,"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":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>PACS2<\/jats:italic> pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven\u2010year\u2010old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo <jats:italic>PACS2<\/jats:italic> recurrent mutation c.625G&gt;A (p.Glu209Lys). Our observation raises the question of the role of <jats:italic>PACS2<\/jats:italic> in the cortical development. It also reminds the importance of cerebellar anomalies in the recognition of <jats:italic>PACS<\/jats:italic>\u2010related DEE.<\/jats:p>","DOI":"10.1002\/epd2.20184","type":"journal-article","created":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T09:40:48Z","timestamp":1701337248000},"page":"215-218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>PACS2<\/i><\/scp> pathogenic variant associated with malformation of cortical development and epilepsy"],"prefix":"10.1002","volume":"26","author":[{"given":"Rayann","family":"Checri","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department, CRMR \u00e9pilepsies rares, EpiCARE Member AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2857-1767","authenticated-orcid":false,"given":"Blandine","family":"Dozi\u00e8res\u2010Puyravel","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, CRMR \u00e9pilepsies rares, EpiCARE Member AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Elmaleh\u2010Berg\u00e8s","sequence":"additional","affiliation":[{"name":"Radiology Department AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, ITHACA ERN Member AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3874-9749","authenticated-orcid":false,"given":"St\u00e9phane","family":"Auvin","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, CRMR \u00e9pilepsies rares, EpiCARE Member AP\u2010HP, Robert\u2010Debr\u00e9 University Hospital  Paris France"},{"name":"INSERM NeuroDiderot Universit\u00e9 Paris Cit\u00e9  Paris France"},{"name":"Institut Universitaire de France (IUF)  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.03.005"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50998"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2022.1417"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2020.10.006"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2020.05.001"},{"key":"e_1_2_5_7_1","unstructured":"BedrosianTA MillerKE GrischowOE YoonH SchiefferKM LaHayeS et\u00a0al.Detection of brain somatic variation in epilepsy\u2010associated developmental lesions.2021[cited 2022 Apr 12]. Available from:http:\/\/medrxiv.org\/lookup\/doi\/10.1101\/2021.12.06.21267079"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2019.12.004"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.07.052"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/bhs387"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2021.09.009"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.20184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T06:54:13Z","timestamp":1741762453000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.20184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,15]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1002\/epd2.20184"],"URL":"https:\/\/doi.org\/10.1002\/epd2.20184","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,15]]},"assertion":[{"value":"2023-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}