Case reports of identical twins with developmental and epileptic encephalopathy with STXBP1 gene mutations for whom different CBD supplementations were markedly effective
{"title":"Case reports of identical twins with developmental and epileptic encephalopathy with STXBP1 gene mutations for whom different CBD supplementations were markedly effective","authors":"Yuji Masataka , Naoko Miki , Kozo Akino , Hitoshi Yamamoto , Ichiro Takumi","doi":"10.1016/j.ebr.2024.100720","DOIUrl":null,"url":null,"abstract":"<div><div>Cannabidiol (CBD) is a compound found specifically in the cannabis plant. Although a clinical trial for intractable epilepsy started in Japan in 2023, it is also available in the market as a dietary supplement. Herein, we report two cases of identical twins with developmental and epileptic encephalopathy with <em>STXBP1</em> gene mutation who achieved seizure suppression through different regimens of CBD supplementation. The observation that different trace ingredients produced different effects in patients with identical genetic backgrounds is a crucial finding that has implications for the future regulation and clinical application of cannabinoid products.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"28 ","pages":"Article 100720"},"PeriodicalIF":1.8000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Epilepsy and Behavior Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2589986424000777","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
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Abstract
Cannabidiol (CBD) is a compound found specifically in the cannabis plant. Although a clinical trial for intractable epilepsy started in Japan in 2023, it is also available in the market as a dietary supplement. Herein, we report two cases of identical twins with developmental and epileptic encephalopathy with STXBP1 gene mutation who achieved seizure suppression through different regimens of CBD supplementation. The observation that different trace ingredients produced different effects in patients with identical genetic backgrounds is a crucial finding that has implications for the future regulation and clinical application of cannabinoid products.
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