Evidence map›Paper›PMID 41623178›Full record

ArticleThe Journal of clinical investigation2026

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

Sophie F Hill, Ethan M Goldberg

Abstract read
In one paragraph

Article in The Journal of clinical investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Sophie F HillDivision of Neurology, Department of Pediatrics and.
Ethan M GoldbergDivision of Neurology, Department of Pediatrics and.

Funding

Interneuron axonopathy underlies circuit dysfunction in a mouse model of Dravet syndromeR01NS110869 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI ETHAN M GOLDBERG · 2019 to 2026
$3.5M
Pathomechanisms of SCN3A-related neurodevelopmental disorderR01NS119977 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDBERG, ETHAN M · 2021 to 2025
$2.7M
NINDS NIH HHS R01 NS110869NINDS NIH HHS R01 NS119977
6 · The paper itself

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.

Indexed as

CRISPR-Cas SystemsEpilepsyGene EditingGenetic TherapyMutation, MissenseNAV1.6 Voltage-Gated Sodium ChannelAnimalsDisease Models, AnimalHumansMiceNAV1.6 Voltage-Gated Sodium ChannelScn8a protein, mouse

Identifiers

PMID41623178
PMCPMC12867158

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.