ArticleExperimental neurology2016
An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.
Article in Experimental neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 34 citations in OpenAlex.
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Heterozygous expression of aeLife · 2024Article
- Heterozygous expression of abioRxiv : the preprint server for biology · 2024Article
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.EBioMedicine · 2023Article
- Genetic Background of Epilepsy and Antiepileptic Treatments.International journal of molecular sciences · 2023Review
- Predicting functional effects of ion channel variants using new phenotypic machine learning methods.PLoS computational biology · 2023Article
- Loss or gain of function? Effects of ion channel mutations on neuronal firing depend on the neuron type.Frontiers in neurology · 2023Article
- Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.EBioMedicine · 2022Article
- Rodent Brain Pathology, Audiogenic Epilepsy.Biomedicines · 2021Review
- Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.Journal of central nervous system disease · 2021Review
- Adrenergic Mechanisms of Audiogenic Seizure-Induced Death in a Mouse Model ofFrontiers in neuroscience · 2021Article
- Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice.Brain : a journal of neurology · 2020Article
- [Effect of calmodulin and its mutants on binding to NaZhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2020Article
- Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.Medicine · 2018Article
- Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.Scientific reports · 2018Article
- The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.Human molecular genetics · 2017Article
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Authors and funding
9 authors at 3 institutions in 1 country.
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Abstract
Understanding the role of SCN8A in epilepsy and behavior is critical in light of recently identified human SCN8A epilepsy mutations. We have previously demonstrated that Scn8a(med) and Scn8a(med-jo) mice carrying mutations in the Scn8a gene display increased resistance to flurothyl and kainic acid-induced seizures; however, they also exhibit spontaneous absence seizures. To further investigate the relationship between altered SCN8A function and epilepsy, we introduced the SCN1A-R1648H mutation, identified in a family with generalized epilepsy with febrile seizures plus (GEFS+), into the corresponding position (R1627H) of the mouse Scn8a gene. Heterozygous R1627H mice exhibited increased resistance to some forms of pharmacologically and electrically induced seizures and the mutant Scn8a allele ameliorated the phenotype of Scn1a-R1648H mutants. Hippocampal slices from heterozygous R1627H mice displayed decreased bursting behavior compared to wild-type littermates. Paradoxically, at the homozygous level, R1627H mice did not display increased seizure resistance and were susceptible to audiogenic seizures. We furthermore observed increased hippocampal pyramidal cell excitability in heterozygous and homozygous Scn8a-R1627H mutants, and decreased interneuron excitability in heterozygous Scn8a-R1627H mutants. These results expand the phenotypes associated with disruption of the Scn8a gene and demonstrate that an Scn8a mutation can both confer seizure protection and increase seizure susceptibility.
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