Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.

IF 0.6 4区医学 Q4 CLINICAL NEUROLOGY

Neurocase Pub Date : 2024-04-01 Epub Date: 2024-05-20 DOI:10.1080/13554794.2024.2354952

Giulia Ferrera, Emilia Ricci, Angela Peron, Elena Parrini, Aglai Vignoli, Maria Paola Canevini

引用次数: 0

Abstract

KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy.

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一名对高度纯化大麻二酚有反应的 KCNB1 相关癫痫患者的连续尖波慢速睡眠：病例报告及与文献的比较。

KCNB1 相关脑病的特征是智力障碍（ID）、自闭症谱系障碍和癫痫。目前仍缺乏具体的治疗方法。我们描述了一名因 KCNB1 变异致病而患有严重智障和抗药性癫痫发作的 12 岁男孩。他的脑电图显示为 CSWS 模式。11 岁时，他开始接受高纯度大麻二酚 (CBD) 治疗，18 个月来一直没有癫痫发作，脑电图和社交能力也有显著改善。这表明大麻二酚可能对 CSWS 有益，很可能是由于它的抗炎特性。一些临床前研究还表明，大麻二酚与电压门控通道有相互作用，这让我们推测它在治疗 KCNB1 相关脑病方面可能发挥的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Neurocase 医学-精神病学

CiteScore

1.40

自引率

12.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Neurocase is a rapid response journal of case studies and innovative group studies in neuropsychology, neuropsychiatry and behavioral neurology that speak to the neural basis of cognition. Four types of manuscript are considered for publication: single case investigations that bear directly on issues of relevance to theoretical issues or brain-behavior relationships; group studies of subjects with brain dysfunction that address issues relevant to the understanding of human cognition; reviews of important topics in the domains of neuropsychology, neuropsychiatry and behavioral neurology; and brief reports (up to 2500 words) that replicate previous reports dealing with issues of considerable significance. Of particular interest are investigations that include precise anatomical localization of lesions or neural activity via imaging or other techniques, as well as studies of patients with neurodegenerative diseases, since these diseases are becoming more common as our population ages. Topic reviews are included in most issues.