{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:40:56Z","timestamp":1777804856278,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T00:00:00Z","timestamp":1737504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (\n                      <jats:italic>MAGI<\/jats:italic>\n                      2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.\n                    <\/jats:p>\n                    <jats:p>\n                      Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.02% (6 in 589), and is thus not higher than the incidence in the general population (0.5%-1.0%). West syndrome emerged as the most common epileptic syndrome in patients with Williams-Beuren syndrome (4 of 6) and typically has a favorable prognosis. There was no genotype-phenotype correlation between\n                      <jats:italic>MAGI<\/jats:italic>\n                      2 deletions and West syndrome in this cohort.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738241305659","type":"journal-article","created":{"date-parts":[[2025,1,22]],"date-time":"2025-01-22T06:33:26Z","timestamp":1737527606000},"page":"318-323","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients"],"prefix":"10.1177","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3170-7053","authenticated-orcid":false,"given":"Johanna","family":"Pohl","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Nuss","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Almuth","family":"Caliebe","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University Hospital Schleswig Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Gosch","sequence":"additional","affiliation":[{"name":"Department of Applied Social Sciences, University of Applied Sciences Munich, Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elke","family":"Reutershahn","sequence":"additional","affiliation":[{"name":"Department for Pediatrics, HELIOS St. Johannes-Klinik, Duisburg, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer","family":"Pankau","sequence":"additional","affiliation":[{"name":"University Medical Center Schleswig-Holstein, Christian-Albrechts University of Kiel, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiltrud","family":"Muhle","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Hospital of Schleswig Holstein, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,1,22]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700406"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-3761"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.001"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13709"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(89)90066-0"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360317"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37410"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<54::AID-AJMG10>3.0.CO;2-U"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050064"},{"issue":"12","key":"e_1_3_4_11_2","first-page":"928","article-title":"A case of Williams syndrome with a large, visible cytogenetic deletion","volume":"36","author":"Wu YQ","year":"1999","unstructured":"Wu YQ, Nickerson E, Shaffer LG, Keppler-Noreuil K, Muilenburg A. A case of Williams syndrome with a large, visible cytogenetic deletion. 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