期刊
FRONTIERS IN NEUROLOGY
卷 12, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2021.659543
关键词
antiepileptic drugs; cannabidiol; neurogenetics; pharmacoresistant epilepsy; Williams-Beuren syndrome
Epilepsy is rare in Williams-Beuren syndrome patients, but studies have found it in patients with larger deletions. A case study showed that using cannabidiol as adjunctive therapy significantly reduced seizure frequency and intensity, improving motor and social skills in the patient.
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.
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