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.
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Disclosure statement
No potential conflict of interest was reported by the author(s).
Data availability statement
Raw data were generated at Epilepsy Center-Sleep Medicine, University of Milan and ASST Santi Paolo e Carlo, Health Sciences Department, Via Antonio di Rudinì, 8, 20142 Milan. Derived data supporting the findings of this study are available from the corresponding author [ER] on request.
Supplementary material
Supplemental data for this article can be accessed online at https://doi.org/10.1080/13554794.2024.2354952