Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice
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In a chemical mutagenesis screen, we identified the novel Scn8a(8J) allele of the gene encoding the neuronal voltage-gated sodium channel Na(v)1.6. The missense mutation V929F in this allele alters an evolutionarily conserved residue in the pore loop of domain 2 of Na(v)1.6. Electroencephalography (EEG) revealed well-defined spike-wave discharges (SWD), the hallmark of absence epilepsy, in Scn8a(8J) heterozygotes and in heterozygotes for two classical Scn8a alleles, Scn8a(med) (null) and Scn8a(med-jo) (missense). Mouse strain background had a significant effect on SWD, with mutants on the C3HeB/FeJ strain showing a higher incidence than on C57BL/6J. The abnormal EEG patterns in heterozygous mutant mice and the influence of genetic background on SWD make SCN8A an attractive candidate gene for common human absence epilepsy, a genetically complex disorder.
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Rbfox1−/− splicing changes affect transcripts encoding ion channels, neurotransmitter receptors, structural proteins and Ca2+ signalling molecules.
“However, these splicing changes affect transcripts encoding ion channels, neurotransmitter receptors, structural proteins and Ca2+ signalling molecules”
From The neurogenetics of alternative splicing (2016) · cites this paper as [136]
Many of the transcripts affected by Rbfox1−/− splicing changes are associated with seizure disorders in humans or mice.
“many of which are associated with seizure disorders in humans or mice, such as the GABAA receptor subunit Gabrg2, Grin1, the voltage-gated sodium channel Scn8a (which encodes NaV1.6), and synaptosomal-associated protein 25 (Snap25)133–137”
From The neurogenetics of alternative splicing (2016) · cites this paper as [136]
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- Authors
- Papale, L. A., Beyer, B., Jones, J. M., Sharkey, L. M., Tufik, S., Epstein, M., Letts, V. A., Meisler, M. H., Frankel, W. N., & Escayg, A.
- Affiliations
- Emory University (US)
- Jackson Laboratory (US)
- University of Michigan (US)
- Corresponding author
- Frankel, Wayne N.
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-03-02
- Volume
- 18
- Issue
- 9
- Pages
- 1633-1641
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2667290
- OpenAlex
- W2120758016
- Cited by
- 127
- References
- 48
- Citations by year
- 2026: 1 · 2025: 6 · 2024: 9 · 2023: 5 · 2022: 3 · 2021: 13 · 2020: 9 · 2019: 11 · 2018: 5 · 2017: 7 · 2016: 5 · 2015: 8 · 2014: 16 · 2013: 11 · 2012: 6
- FWCI
- 3.49
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by-nc
- Locations
- Human Molecular Genetics (publishedVersion, cc-by-nc)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Americanae (AECID Library) (submittedVersion)
- The Mouseion at the JAXlibrary (Jackson Laboratory) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas) (submittedVersion, other-oa)
- Funders
- University of Michigan
- National Institutes of Health
- National Institute of Neurological Disorders and Stroke (NS32801, NS046484, NS 34509, NS31348, R01NS046484, R01NS034509)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD042137)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- SCN8A, absence epilepsy, spike-wave discharges, heterozygous mutation, chemical mutagenesis, mouse genetic background, C57BL/6J mice, candidate genes
- MeSH terms
- Animals, Base Sequence, Disease Models, Animal, Electrophysiology, Epilepsy, Absence, Heterozygote, Humans, Mice, Inbred C3H, Mice, Inbred C57BL, Mice, Transgenic, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Phenotype, Sodium Channels, Mutation, Missense, Mice, NAV1.6 Voltage-Gated Sodium Channel
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