ArticleMammalian genome : official journal of the International Mammalian Genome Society2009
Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Review
- Regulation of Kv2.1 Channels by Kv9.1 Variants.Biomedicines · 2025Article
- DecipheringArXiv · 2024Article
- A versatile functional interaction between electrically silent KCellular and molecular life sciences : CMLS · 2024Article
- Strain-dependent effects on neurobehavioral and seizure phenotypes inbioRxiv : the preprint server for biology · 2023Article
- Kv Channel Ancillary Subunits: Where Do We Go from Here?Physiology (Bethesda, Md.) · 2022Review
- Gabra2 is a genetic modifier of Dravet syndrome in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Ion Channel Functions in Early Brain Development.Trends in neurosciences · 2020Review
- Distinct functional alterations in SCN8A epilepsy mutant channels.The Journal of physiology · 2020Article
- Noncanonical Ion Channel Behaviour in Pain.International journal of molecular sciences · 2019Review
- Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders.The Journal of general physiology · 2016Review
- Hlf is a genetic modifier of epilepsy caused by voltage-gated sodium channel mutations.Epilepsy research · 2016Article
- Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy.PLoS genetics · 2014Article
- Rare autosomal copy number variations in early-onset familial Alzheimer's disease.Molecular psychiatry · 2014Article
- Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?Mammalian genome : official journal of the International Mammalian Genome Society · 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
- Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.PloS one · 2014Article
- Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.Genes, brain, and behavior · 2012Article
- Epilepsy as a neurodevelopmental disorder.Frontiers in psychiatry · 2012Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Mutations in voltage-gated sodium channels are associated with several types of human epilepsy. Variable expressivity and penetrance are common features of inherited epilepsy caused by sodium channel mutations, suggesting that genetic modifiers may influence clinical severity. The mouse model Scn2a(Q54) has an epilepsy phenotype due to a mutation in Scn2a that results in elevated persistent sodium current. Phenotype severity in Scn2a(Q54) mice is dependent on the genetic background. Congenic C57BL/6J.Q54 mice have delayed onset and low seizure frequency compared to (C57BL/6J x SJL/J)F1.Q54 mice. Previously, we identified two modifier loci that influence the Scn2a(Q54) epilepsy phenotype: Moe1 (modifier of epilepsy 1) on Chromosome 11 and Moe2 on Chromosome 19. We have constructed interval-specific congenic strains to further refine the position of Moe2 on Chromosome 19 to a 5-Mb region. Sequencing and expression analyses of genes in the critical interval suggested two potential modifier candidates: (1) voltage-gated potassium channel subunit subfamily V, member 2 (Kcnv2), and (2) SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 2 (Smarca2). Based on its biological role in regulating membrane excitability and the association between ion channel variants and seizures, Kcnv2 is a strong functional candidate for Moe2. Modifier genes affecting the epilepsy phenotype of Scn2a(Q54) mice may contribute to variable expressivity and penetrance in human epilepsy patients with sodium channel mutations.
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