A hit for base editing: treatment of developmental epilepsy in a mouse model
Abstract
CRISPR/Cas9 base editing holds the potential to treat disease caused by single-nucleotide variants. In contrast with conventional CRISPR/Cas9 approaches, base editing enzymatically induces precise DNA alterations and can directly correct disease-causing variants. In this issue of JCI, Reever et al. used base editing to treat a mouse model of a severe neurodevelopmental disorder caused by a pathogenic missense variant in the voltage-gated sodium channel gene SCN8A. This work represents a starting point for the further refinement of base editing to treat genetic epilepsy.
Fields of Study & Subjects
CRISPR and Genetic Engineering
RNA regulation and disease
Genetic Neurodegenerative Diseases
Publication details
- Journal / source
- Journal of Clinical Investigation
- Publisher
- American Society for Clinical Investigation
- Volume
- 136
- Issue
- 3
- Publication date
- 1 February 2026
- Language
- EN