Epileptic Phenotype and Cannabidiol Efficacy in a Williams–Beuren Syndrome Patient With Atypical Deletion: A Case Report

Antonio G. Nicotera, Maria Spanò, Alice Decio, Giulia Valentini, Maria Saia, Gabriella Di Rosa

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number659543
Number of pages5
JournalFrontiers in Neurology
Volume12
DOIs
Publication statusPublished - Jun 8 2021

Keywords

  • antiepileptic drugs
  • cannabidiol
  • neurogenetics
  • pharmacoresistant epilepsy
  • Williams-Beuren syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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