ArticleCell death discovery2025
A knock-in mouse model for GABRG2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Article in Cell death discovery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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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.
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.
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Who cites it
3 citing papers in PubMed.
- Article
- Acute Seizure Susceptibility and Chronic Vascular Malformation in a Developmental Mouse Model of Sturge-Weber Syndrome.International journal of molecular sciences · 2026Article
- Molecular Basis of GABA Aminotransferase Inhibition in Epilepsy: Structure, Mechanisms, and Drug Development.Current issues in molecular biology · 2025Review
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
De novo mutations in voltage- and ligand-gated ion channels have been associated with an increasing number of cases of developmental and epileptic encephalopathies (DEEs), which often fail to respond to classic antiseizure medications. A de novo mutation (c.C316G > A, p.A106T) in the human GABA type-A receptor γ2 subunit gene (GABRG2) has been recurrently identified in patients with DEE. In this study, we generated a knock-in mouse model replicating the human GABRG2(A106T) variation (Gabrg2
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Registered trials
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