ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2010
A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2010. 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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26 citing papers in PubMed, 67 citations in OpenAlex.
- Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids.Epilepsia · 2026Article
- Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy.International journal of molecular sciences · 2023Review
- Human iPSC Modeling of Genetic Febrile Seizure Reveals Aberrant Molecular and Physiological Features Underlying an Impaired Neuronal Activity.Biomedicines · 2022Article
- Glass-brain mapping provides an adjunct tool for structural analysis in mouse models of neurodevelopmental disease.Neuroimage. Reports · 2021Article
- Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.Journal of central nervous system disease · 2021Review
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Article
- The expression of endogenous voltage-gated potassium channels in HEK293 cells is affected by culture conditions.Physiological reports · 2018Article
- Application of genome editing technologies in rats for human disease models.Journal of human genetics · 2018Review
- Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.Communications biology · 2018Article
- Early-life febrile seizures worsen adult phenotypes in Scn1a mutants.Experimental neurology · 2017Article
- Generation of Febrile Seizures and Subsequent Epileptogenesis.Neuroscience bulletin · 2016Review
- Synaptic vesicle glycoprotein 2A (SV2A) regulates kindling epileptogenesis via GABAergic neurotransmission.Scientific reports · 2016Article
- Effect of magnesium sulfate on hyperthermia and pentylen-tetrazol-induced seizure in developing rats.Iranian journal of basic medical sciences · 2016Article
- Advances on genetic rat models of epilepsy.Experimental animals · 2015Review
- Homeostasis or channelopathy? Acquired cell type-specific ion channel changes in temporal lobe epilepsy and their antiepileptic potential.Frontiers in physiology · 2015Review
- A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.PloS one · 2014Article
- Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.The Journal of general physiology · 2013Article
- A human Dravet syndrome model from patient induced pluripotent stem cells.Molecular brain · 2013Article
- SCN1A mutations in Dravet syndrome: impact of interneuron dysfunction on neural networks and cognitive outcome.Epilepsy & behavior : E&B · 2012Review
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although febrile seizures (FSs) are the most common convulsive syndrome in infants and childhood, the etiology of FSs has remained unclarified. Several missense mutations of the Na(v)1.1 channel (SCN1A), which alter channel properties, have been reported in a familial syndrome of GEFS+ (generalized epilepsy with febrile seizures plus). Here, we generated Scn1a-targeted rats carrying a missense mutation (N1417H) in the third pore region of the sodium channel by gene-driven ENU (N-ethyl-N-nitrosourea) mutagenesis. Despite their normal appearance under ordinary circumstances, Scn1a mutant rats exhibited remarkably high susceptibility to hyperthermia-induced seizures, which involve generalized clonic and/or tonic-clonic convulsions with paroxysmal epileptiform discharges. Whole-cell patch-clamp recordings from HEK cells expressing N1417H mutant channels and from hippocampal GABAergic interneurons of N1417H mutant rats revealed a significant shift of the inactivation curve in the hyperpolarizing direction. In addition, clamp recordings clearly showed the reduction in action potential amplitude in the hippocampal interneurons of these rats. These findings suggest that a missense mutation (N1417H) of the Na(v)1.1 channel confers susceptibility to FS and the impaired biophysical properties of inhibitory GABAergic neurons underlie one of the mechanisms of FS.
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