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.
Giulia FerreraEmilia RicciAngela PeronElena ParriniAglai VignoliMaria Paola CaneviniPublished in: Neurocase (2024)
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.
Keyphrases
- intellectual disability
- autism spectrum disorder
- early onset
- anti inflammatory
- temporal lobe epilepsy
- functional connectivity
- working memory
- resting state
- attention deficit hyperactivity disorder
- systematic review
- mental health
- healthcare
- physical activity
- stem cells
- mesenchymal stem cells
- bone marrow
- depressive symptoms
- cell therapy
- combination therapy
- drug delivery
- replacement therapy