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

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

doi:10.1016/j.ebr.2024.100720

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

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

Authors

Yuji Masataka^{1

2

3}, Naoko Miki², Kozo Akino⁴, Hitoshi Yamamoto⁵, Ichiro Takumi^{3

6}

Affiliations

¹ Department of Neurology, Kumamoto Seijo Hospital, Kumamoto, Japan.
² General Incorporated Association Green Zone Japan, Saitama, Japan.
³ General Incorporated Association Japan Clinical Association of Cannabinoids, Kanagawa, Japan.
⁴ Member of the House of Councillors (District of Fukuoka Prefecture), Tokyo, Japan.
⁵ Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan.
⁶ Department of Neurosurgery, St.Marianna University School of Medicine, Kanagawa, Japan.

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.

Keywords: Broad-spectrum; CBD; Cannabidiol; Cannabis; Epilepsy.

Publication types

Case Reports