CASE REPORT


Cannabidiol Successful Therapy for Developmental and Epileptic Encephalopathy Related to CYFIP2



Fernanda Veiga de Góes1, *, Jessyca Thays Melo de Andrade Ramos1, Rosiane da Silva Fontana2, Cassio Luiz de Carvalho Serão3, Fernando Kok4, Dafne Dain Gandelman Horovitz5
1 Department of Pediatrics, Child Neurology Service, Fernandes Figueira Institute, Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Brazil
2 Department of Epilepsy, Paulo Niemeyer Brain State Institute, Rio de Janeiro, Brazil
3 Department of Genetics, Petrópolis Medical School – Rio de Janeiro, Brazil
4 University of São Paulo of School of Medicine, São Paulo, Brazil
5 Department of Medical Genetics, Fernandes Figueira Institute, Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Brazil


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Creative Commons License
© 2022 de Góes et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: https://creativecommons.org/licenses/by/4.0/legalcode. This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

* Address correspondence to this author at the Department of Pediatrics, Child Neurology Service, Fernandes Figueira Institute, Oswaldo Cruz Foundation (Fiocruz), Rio de Janeiro, Brazil; Tel: +552125541805; E-mail: fernandavgoes@gmail.com


Abstract

Background:

The knowledge about the molecular basis of epilepsies has increased enormously with the advent of next-generation sequencing (NGS) technology, and CYFIP2 is one of the many genes recently recognized and associated with epilepsy. Pathogenic variants in CYFIP2 cause Developmental and Epileptic Encephalopathy 65 (DEE65), which is characterized by hypotonia, profound developmental delay, and epilepsy.

Case Presentation:

Herein, we report a 3-year-old male with an early onset epileptic encephalopathy (Ohtahara syndrome) evolving to Lennox-Gastaut syndrome refractory to several antiseizure medications. Whole exome sequencing (WES) disclosed a heterozygous pathogenic variant p.(Arg87Cys) in CYFIP2, which occurred as a de novo event. After the introduction of cannabidiol, the patient remained seizure-free for 16 months and had a marked electroencephalographic improvement.

Conclusion:

Cannabidiol might be a therapeutic option for CYFIP2-related epilepsy

Keywords: CYFIP2, Epilepsy, Epileptic encephalopathy, Cannabidiol, Lennox-Gastaut Syndrome, Pathogenic variants.