ArticleMammalian genome : official journal of the International Mammalian Genome Society2005
Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 69 citations in OpenAlex.
- Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.International journal of molecular sciences · 2025Review
- Review
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Developmental mechanisms underlying pediatric epilepsy.Frontiers in neurology · 2025Review
- DecipheringArXiv · 2024Article
- Voltage-Gated Ion Channel Compensatory Effect in DEE: Implications for Future Therapies.Cells · 2024Review
- Strain-dependent effects on neurobehavioral and seizure phenotypes inbioRxiv : the preprint server for biology · 2023Article
- Variant inJournal of pediatric genetics · 2023Article
- Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.Human molecular genetics · 2022Article
- Article
- Gabra2 is a genetic modifier of Dravet syndrome in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?Molecular autism · 2020Review
- Distinct functional alterations in SCN8A epilepsy mutant channels.The Journal of physiology · 2020Article
- Gene expression profiling in a mouse model of Dravet syndrome.Experimental neurology · 2019Article
- The L-type voltage-gated calcium channel CaLearning & memory (Cold Spring Harbor, N.Y.) · 2017Article
- Strain-dependence of the Angelman Syndrome phenotypes in Ube3a maternal deficiency mice.Scientific reports · 2017Article
- Article
- CaMKII modulates sodium current in neurons from epilepticProceedings of the National Academy of Sciences of the United States of America · 2017Article
- Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a.Epilepsia · 2016Article
- Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders.The Journal of general physiology · 2016Review
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in the voltage-gated sodium channels SCN 1 A and SCN 2 A are responsible for several types of human epilepsy. Variable expressivity among family members is a common feature of these inherited epilepsies, suggesting that genetic modifiers may influence the clinical manifestation of epilepsy. The transgenic mouse model Scn 2 a(Q 54) has an epilepsy phenotype as a result of a mutation in Scn 2 a that slows channel inactivation. The mice display progressive epilepsy that begins with short-duration partial seizures that appear to originate in the hippocampus. The partial seizures become more frequent and of longer duration with age and often induce secondary generalized seizures. Clinical severity of the Scn 2 a(Q 54) phenotype is influenced by genetic background. Congenic C57BL/6J.Q 54 mice exhibit decreased incidence of spontaneous seizures, delayed seizure onset, and longer survival in comparison with [C57BL/6J x SJL/J]F(1).Q 54 mice. This observation indicates that strain SJL/J carries dominant modifier alleles at one or more loci that determine the severity of the epilepsy phenotype. Genome-wide interval mapping in an N(2) backcross revealed two modifier loci on Chromosomes 11 and 19 that influence the clinical severity of of this sodium channel-induced epilepsy. Modifier genes affecting clinical severity in the Scn 2 a(Q 54) mouse model may contribute to the variable expressivity seen in epilepsy patients with sodium channel mutations.
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