ArticleGenes, brain, and behavior2012
Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.
Article in Genes, brain, and behavior, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 29 citations in OpenAlex.
- Article
- STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.International journal of molecular sciences · 2023Article
- Strain-dependent effects on neurobehavioral and seizure phenotypes inbioRxiv : the preprint server for biology · 2023Article
- Article
- Gabra2 is a genetic modifier of Dravet syndrome in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Modifier genes in SCN1A-related epilepsy syndromes.Molecular genetics & genomic medicine · 2020Article
- Gene expression profiling in a mouse model of Dravet syndrome.Experimental neurology · 2019Article
- Article
- Models and detection of spontaneous recurrent seizures in laboratory rodents.Zoological research · 2017Review
- CaMKII modulates sodium current in neurons from epilepticProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Article
- Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.Epilepsia · 2016Article
- Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.Epilepsy research · 2016Article
- Profiling status epilepticus-induced changes in hippocampal RNA expression using high-throughput RNA sequencing.Scientific reports · 2014Article
- Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy.PLoS genetics · 2014Article
- A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.Genes, brain, and behavior · 2014Article
- Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.Genes, brain, and behavior · 2014Article
- Genes, behavior and next-generation RNA sequencing.Genes, brain, and behavior · 2013Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Epilepsy is a neurological disorder affecting approximately 1% of the worldwide population. Mutations in voltage-gated sodium channels have been identified in several monogenic epilepsy syndromes. Over 800 mutations have been identified in the voltage-gated sodium channel genes SCN1A and SCN2A in human epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome. In GEFS+ families, affected members with the same mutation often display variability in clinical severity of the disease. This suggests that additional genes modify the effect of the primary mutation, resulting in the variable clinical presentation. The Scn2a(Q54) transgenic mouse model has an epilepsy phenotype that varies depending on the genetic strain background. Scn2a(Q54) mice congenic on the C57BL/6J strain exhibit delayed seizure onset and improved survival compared to (C57BL/6J × SJL/J)F1.Q54 mice. Two modifier loci of Scn2a(Q54) seizure susceptibility were mapped and designated Moe1 (modifier of epilepsy) on chromosome (chr) 11 and Moe2 on chr 19. To confirm Moe1 and refine its position, we generated interval-specific congenic lines carrying C57BL/6J-derived chr 11 alleles on the SJL/J strain and refined the map position to 89-104 Mb. We then used RNA-Seq for candidate analysis in the modifier region. C57BL/6J and SJL/J male and female brain RNAs were sequenced, revealing numerous significant transcriptome differences and coding single-nucleotide polymorphisms. Additional consideration of gene function and expression suggested several strong candidate modifier genes, including two voltage-gated calcium channel subunits, Cacna1g and Cacnb1, and the proline and acidic amino acid-rich basic leucine zipper transcription factor, Hlf.
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