학술논문
Continuous spike-wave of slow sleep in a patient with KCNB1-related epilepsy responsive to highly purified cannabidiol: a case report and comparison with literature.
Document Type
Case Study
Author
Source
Subject
*EPILEPSY
*CANNABIDIOL
*PEOPLE with epilepsy
*AUTISM spectrum disorders
*SOCIAL skills
*INTELLECTUAL disabilities
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Language
ISSN
1355-4794
Abstract
KCNB1-associated encephalopathy is characterized by intellectual disability (ID), autism spectrum disorder and epilepsy. Specific treatments are still lacking. We describe a 12-year-old boy with severe ID and treatment-resistant seizures due to a pathogenic KCNB1 variant. His EEG showed a CSWS pattern. Aged 11, he started treatment with highly purified cannabidiol (CBD) and has been seizure free for 18 months, with significant EEG and social skills improvements. This suggests CBD may benefit CSWS, likely due to its anti-inflammatory properties. Some preclinical studies also indicate CBDs interact with voltage-gated channels, leading us to speculate its possible role for treating KCNB1 related encephalopathy. [ABSTRACT FROM AUTHOR]