A hit for base editing: treatment of developmental epilepsy in a mouse model

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.

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Publication Details

Journal
Journal of Clinical Investigation
Published
2026-02-01
DOI
https://doi.org/10.1172/jci200689
Primary Topic
CRISPR and Genetic Engineering
Type
article
Field-Weighted Citation Impact
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article

A hit for base editing: treatment of developmental epilepsy in a mouse model

Ethan M. Goldberg, Sophie F. Hill
Journal of Clinical Investigation
CRISPR and Genetic Engineering
article

A hit for base editing: treatment of developmental epilepsy in a mouse model

Ethan M. Goldberg, Sophie F. Hill
article en

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.

Journal of Clinical InvestigationVol. 136(3)
Children's Hospital of Philadelphia (US), Pediatrics and Genetics (US), University of Pennsylvania (US)
Good health and well-being
Openalex Percentile: Top 71%
CRISPR and Genetic Engineering
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