ArticleEpilepsia2020
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.
Article in Epilepsia, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 20 citations in OpenAlex.
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- Defining the Cis-Regulatory Elements of SCN1A in GABAergic Interneurons.Molecular neurobiology · 2025Article
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.EBioMedicine · 2023Article
- Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c.G3 (Bethesda, Md.) · 2023Article
- A novelThe Journal of international medical research · 2023Article
- Yo GABA GABA! Convergent Mechanisms Driven by Gain-of-FunctionEpilepsy currents · 2022Article
- Correction of the hypomorphicHGG advances · 2022Article
- Ictal neural oscillatory alterations precede sudden unexpected death in epilepsy.Brain communications · 2022Article
- Gabra2 is a genetic modifier of Dravet syndrome in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Spontaneous seizures and elevated seizure susceptibility in response to somatic mutation of sodium channel Scn8a in the mouse.Human molecular genetics · 2021Article
- Sodium channelopathies in neurodevelopmental disorders.Nature reviews. Neuroscience · 2021Review
- Content and Performance of the MiniMUGA Genotyping Array: A New Tool To Improve Rigor and Reproducibility in Mouse Research.Genetics · 2020Article
- Article
- More Genes, Better Outcome?Epilepsy currentsArticle
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6 authors at 2 institutions in 1 country.
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Abstract
objectiveSCN8A encephalopathy is a developmental epileptic encephalopathy typically caused by de novo gain-of-function mutations in Na
methodsWe generated F1 and F2 crosses between inbred mouse strains and mice carrying the human pathogenic variants SCN8A-R1872W and SCN8A-N1768D. Quantitative trait locus (QTL) analysis of seizure-related phenotypes was used for chromosomal mapping of modifier loci.
resultsIn an F2 cross between strain SJL/J and C57BL/6J mice carrying the patient mutation R1872W, we identified a major QTL on chromosome 5 containing the Gabra2 gene. Strain C57BL/6J carries a splice site mutation that reduces expression of Gabra2, encoding the α2 subunit of the aminobutyric acid type A receptor. The protective wild-type allele of Gabra2 from strain SJL/J delays the age at seizure onset and extends life span of the Scn8a mutant mice. Additional Scn8a modifiers were observed in the F2 cross and in an F1 cross with strain C3HeB/FeJ. SIGNIFICANCE: These studies demonstrate that the SJL/J strain carries multiple modifiers with protective effects against seizures induced by gain-of-function mutations in Scn8a. Homozygosity for the hypomorphic variant of Gabra2 in strain C57BL/6J is associated with early seizure onset and short life span. GABRA2 is a potential therapeutic target for SCN8A encephalopathy.
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