患有STXBP1基因突变的发育不良和癫痫性脑病的同卵双胞胎的病例报告，补充不同的CBD对他们明显有效

IF 1.8 Q3 CLINICAL NEUROLOGY

Epilepsy and Behavior Reports Pub Date : 2024-01-01 DOI:10.1016/j.ebr.2024.100720

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

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引用次数: 0

摘要

大麻二酚（CBD）是一种专门存在于大麻植物中的化合物。虽然日本于 2023 年开始对难治性癫痫进行临床试验，但它也可以作为膳食补充剂在市场上销售。在此，我们报告了两例同卵双胞胎，他们患有STXBP1基因突变的发育性癫痫性脑病，通过不同的CBD补充方案实现了癫痫发作的抑制。观察到不同的微量成分对具有相同遗传背景的患者产生了不同的效果，这是一个至关重要的发现，对未来大麻素产品的监管和临床应用具有重要意义。

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

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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来源期刊

Epilepsy and Behavior Reports Medicine-Neurology (clinical)

CiteScore

2.70

自引率

13.30%

发文量

审稿时长

50 days