Evidence map›Paper›PMID 41472544›Full record

ArticleEpilepsia2026

Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.

Anat Mavashov, Shaked Turk, Yael Sarusi, Marina Brusel, Rotem Ben Tov Perry, Shir Quinn, Yael Almog, Karni Vilian, Mor Yam, Igor Ulitsky and 1 more

Abstract read
In one paragraph

Article in Epilepsia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Anat MavashovDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Shaked TurkDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Yael SarusiDepartment of Immunology and Regenerative Biology, Weizmann Institute of Science, Rehovot, Israel.
Marina BruselDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Rotem Ben Tov PerryDepartment of Immunology and Regenerative Biology, Weizmann Institute of Science, Rehovot, Israel.
Shir QuinnDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Yael AlmogDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Karni VilianDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Mor YamDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.
Igor UlitskyDepartment of Immunology and Regenerative Biology, Weizmann Institute of Science, Rehovot, Israel.
Moran RubinsteinDepartment of Human Molecular Genetics and Biochemistry, Gray Faculty of Medical & Health Sciences, Goldschleger Eye Research Institute, Tel Aviv University, Tel Aviv, Israel.

Funding

Abisch-Frenkel RNA Therapeutics CenterCoalition to Cure CHD2Gladys Monroy and Larry Marks Center for Brain DisordersJudith Ruth Institute for Preclinical Brain ResearchMarguerite Stolz Research Fellowship, Gray Faculty of Medical & Health SciencesNella and Leon Benoziyo Center for Neurological DiseasesPrajs-Drimmer Institute, Tel Aviv UniversityRecanati Foundation, Gray Faculty of Medical & Health SciencesThe Israel Science Foundation #214/22, MRWeizmann-Brazil Center for Research on Neurodegeneration
6 · The paper itself

Abstract

objectiveHeterozygous loss-of-function mutations in the CHD2 gene, encoding chromodomain helicase DNA-binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental disorders and developing novel treatments. However, such a model for CHD2-related disorders has been missing.

methodsWe performed behavioral, electrographic, epileptic, and transcriptomic analyses to characterize a mouse model harboring a frameshift truncating mutation in the Chd2 gene (Chd2

resultsThe genetic background altered the severity of disease-related phenotypes, such that crossing the mice from the C57BL/6J onto the 129X1/SvJ background uncovered neurodevelopmental phenotypes. On the 129X1/SvJ background, Chd2 SIGNIFICANCE: This mouse model recapitulates key phenotypes observed in CHD2 patients, providing a valuable platform to study the molecular basis and potential treatment strategies for this intractable disorder.

Indexed as

Behavior, AnimalDevelopmental DisabilitiesDNA-Binding ProteinsEpilepsyAnimalsDisease Models, AnimalFemaleMaleMiceMice, Inbred C57BLPhenotypeDNA-Binding ProteinsCHD2developmental delayECoG background changesmouse model

Identifiers

PMID41472544
PMCPMC13075614

What Socratic holds

Textmetadata
LicenceCC BY-NC
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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 Socratic graph.