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患有STXBP1基因突变的发育性和癫痫性脑病的同卵双胞胎的病例报告,不同的大麻二酚补充剂对他们有显著疗效。

Case reports of identical twins with developmental and epileptic encephalopathy with STXBP1 gene mutations for whom different CBD supplementations were markedly effective.

作者信息

Masataka Yuji, Miki Naoko, Akino Kozo, Yamamoto Hitoshi, Takumi Ichiro

机构信息

Department of Neurology, Kumamoto Seijo Hospital, Kumamoto, Japan.

General Incorporated Association Green Zone Japan, Saitama, Japan.

出版信息

Epilepsy Behav Rep. 2024 Oct 24;28:100720. doi: 10.1016/j.ebr.2024.100720. eCollection 2024.

DOI:10.1016/j.ebr.2024.100720
PMID:39534466
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11555409/
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 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.

摘要

大麻二酚(CBD)是一种专门在大麻植物中发现的化合物。尽管2023年在日本启动了一项针对难治性癫痫的临床试验,但它也作为一种膳食补充剂在市场上有售。在此,我们报告了两例患有发育性和癫痫性脑病且基因突变的同卵双胞胎,他们通过不同的CBD补充方案实现了癫痫发作抑制。在具有相同遗传背景的患者中,不同的微量成分产生不同效果这一观察结果是一项关键发现,对大麻素产品未来的监管和临床应用具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/58db/11555409/35cc2520a069/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/58db/11555409/35cc2520a069/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/58db/11555409/35cc2520a069/gr1.jpg

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Br J Pharmacol. 2023 Jun;180(12):1616-1633. doi: 10.1111/bph.16035. Epub 2023 Feb 7.
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