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
Identifiers and Pagination:Year: 2022
E-location ID: e1874205X2203290
Publisher ID: e1874205X2203290
Article History:Received Date: 19/8/2021
Revision Received Date: 2/11/2021
Acceptance Date: 11/1/2022
Electronic publication date: 02/06/2022
Collection year: 2022
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.
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.
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.
Cannabidiol might be a therapeutic option for CYFIP2-related epilepsy