{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T04:53:55Z","timestamp":1784091235180,"version":"3.55.0"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Epilepsy is a rare clinical manifestation in Williams\u2013Beuren syndrome patients. However, some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions. Herein, we describe a 13-year-old female affected by Williams\u2013Beuren syndrome and pharmacoresistant epilepsy reporting a <jats:italic>de novo<\/jats:italic> large heterozygous 7q11.21q21 deletion (19.4 Mb) also including the <jats:italic>YWHAG<\/jats:italic> gene. Studies indicate that cannabidiol is effective as adjunctive therapy for seizures associated with tuberous sclerosis complex, and it is under investigation also in focal cortical dysplasia. When treated with cannabidiol, our patient showed a significant reduction in seizure frequency and intensity, and improved motor and social skills. We hypothesized that CBD could exert a gene\/disease-specific effect.<\/jats:p>","DOI":"10.3389\/fneur.2021.659543","type":"journal-article","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T05:43:37Z","timestamp":1623131017000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Epileptic Phenotype and Cannabidiol Efficacy in a Williams\u2013Beuren Syndrome Patient With Atypical Deletion: A Case Report"],"prefix":"10.3389","volume":"12","author":[{"given":"Antonio G.","family":"Nicotera","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Span\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Decio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Valentini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Saia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Di Rosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,6,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1056\/NEJMra0903074","article-title":"Williams-Beuren syndrome","volume":"362","author":"Pober","year":"2010","journal-title":"N Engl J Med"},{"key":"B2","first-page":"148","article-title":"Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region","volume-title":"Am J Med Genet A","author":"Nicita","year":"2016"},{"key":"B3","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1016\/j.ajhg.2010.10.019","article-title":"Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems","volume":"87","author":"Ramocki","year":"2010","journal-title":"Am J Hum Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1016\/j.ajhg.2008.06.001","article-title":"Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11","volume":"83","author":"Marshall","year":"2008","journal-title":"Am J Hum Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1435","DOI":"10.1007\/s40265-019-01171-4","article-title":"Pharmacological and therapeutic properties of cannabidiol for epilepsy","volume":"79","author":"Franco","year":"2019","journal-title":"Drugs"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1617","DOI":"10.1111\/epi.13499","article-title":"Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex","volume":"57","author":"Hess","year":"2016","journal-title":"Epilepsia"},{"key":"B7","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1089\/104454999315105","article-title":"14-3-3Gamma interacts with and is phosphorylated by multiple protein kinase C isoforms in PDGF-stimulated human vascular smooth muscle cells","volume":"18","author":"Autieri","year":"1999","journal-title":"DNA Cell Biol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1508","DOI":"10.3389\/fphar.2018.01508","article-title":"Contribution of altered endocannabinoid system to overactive mTORC1 signaling in focal cortical dysplasia","volume":"9","author":"Garc\u00eda-Rinc\u00f3n","year":"2019","journal-title":"Front Pharmacol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1002\/ajmg.a.61483","article-title":"Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy","volume":"182","author":"Kanani","year":"2020","journal-title":"Am J Med Genet A"},{"key":"B10","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1152\/physiolgenomics.2000.3.3.175","article-title":"Large-scale analysis of gene expression changes during acute and chronic exposure to [Delta] 9-THC in rats","volume":"3","author":"Kittler","year":"2000","journal-title":"Physiol Genomics"},{"key":"B11","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1016\/j.tibs.2011.03.006","article-title":"The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation","volume":"36","author":"Mendoza","year":"2011","journal-title":"Trends Biochem Sci."},{"key":"B12","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1016\/j.bbrc.2003.10.170","article-title":"Tuberous sclerosis genes regulate cellular 14-3-3 protein levels","volume":"312","author":"Hengstschlager","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"B13","doi-asserted-by":"publisher","first-page":"347","DOI":"10.2478\/s11658-014-0200-x","article-title":"Cannabinoid receptor activation inhibits cell cycle progression by modulating 14-3-3\u03b2","volume":"19","author":"Jung","year":"2014","journal-title":"Cell Mol Biol Lett"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.659543\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T05:43:39Z","timestamp":1623131019000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.659543\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":13,"alternative-id":["10.3389\/fneur.2021.659543"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2021.659543","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,8]]},"article-number":"659543"}}