PDF(Pubmed)
Abstract：
Epilepsy is a rare clinical manifestation in Williams-Beuren syndrome patients. However, some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions. Herein, we describe a 13-year-old female affected by Williams-Beuren syndrome and pharmacoresistant epilepsy reporting a de novo large heterozygous 7q11.21q21 deletion (19.4 Mb) also including the YWHAG gene. Studies indicate that cannabidiol is effective as adjunctive therapy for seizures associated with tuberous sclerosis complex, and it is under investigation also in focal cortical dysplasia. When treated with cannabidiol, our patient showed a significant reduction in seizure frequency and intensity, and improved motor and social skills. We hypothesized that CBD could exert a gene/disease-specific effect.
摘要：
癫痫是Williams-Beuren综合征患者的罕见临床表现。然而,一些研究报告，婴儿痉挛和癫痫患者携带较大的缺失存在。在这里，我们描述了一名13岁的女性患者,其患有Williams-Beuren综合征和药物抗性癫痫,报告了一个从头大杂合子7q11.21q21缺失(19.4Mb),其中也包括YWHAG基因.研究表明，大麻二酚是有效的辅助治疗与结节性硬化症相关的癫痫发作，它也在局灶性皮质发育不良的研究中。当用大麻二酚治疗时，我们的病人显示癫痫发作频率和强度显著降低，并提高了运动和社交技能。我们假设CBD可以发挥基因/疾病特异性作用。
