Canna~Fangled Abstracts

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

By June 8, 2021June 26th, 2021No Comments

Case Reports
. 2021 Jun 8;12:659543.

doi: 10.3389/fneur.2021.659543. eCollection 2021.

Antonio G Nicotera 1, Maria Spanò 1, Alice Decio 2, Giulia Valentini 1, Maria Saia 1, Gabriella Di Rosa 1
Affiliations 

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.

 

Keywords: Williams-Beuren syndrome, antiepileptic drugs, cannabidiol, neurogenetics, pharmacoresistant epilepsy

Conflict of interest statement

The authors declare that this study received funding from GW Pharmaceuticals plc. London (London, United Kingdom). The funder was not involved in the study design, collection, analysis, interpretation of data, the writing of this article or the decision to submit it for publication.

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References

    1. Pober BR. Williams-Beuren syndrome. N Engl J Med. (2010) 362:239–52. 10.1056/NEJMra0903074 – DOI – PubMed
    1. Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C, et al. . Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A. (2016) 170A:148–55. 10.1002/ajmg.a.37410 – DOI – PubMed
    1. Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, et al. . Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet. (2010) 87:857–65. 10.1016/j.ajhg.2010.10.019 – DOI – PMC – PubMed
    1. Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, et al. . Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet. (2008) 83:106–111. 10.1016/j.ajhg.2008.06.001 – DOI – PMC – PubMed
    1. Franco V, Perucca E. Pharmacological and therapeutic properties of cannabidiol for epilepsy. Drugs. (2019) 79:1435–54. 10.1007/s40265-019-01171-4 – DOI – PubMed

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