ArticleGenes, brain, and behavior2014
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
Article in Genes, brain, and behavior, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
123 citing papers in PubMed, 193 citations in OpenAlex.
- cGAS-mediated type I IFN signaling contributes to disease progression in drug-refractory epilepsy.Nature neuroscience · 2026Article
- Article
- Persistent input- and cell-type-specific synaptic alterations in the somatosensory thalamus of Dravet syndrome mice.Journal of neurophysiology · 2026Article
- Compensatory rearrangement of parvalbumin interneuron voltage-gated sodium channel subunits in a mouse model of Dravet syndrome.Epilepsia · 2026Article
- Clinical Failure Validates a Fifth Predictive Preclinical Antiseizure Medicine Discovery Model.Epilepsy currents · 2026Article
- AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet syndrome.Molecular therapy. Nucleic acids · 2026Article
- Chronic Stress Alters Dorsal Bed Nucleus of Stria Terminalis Synaptic Neurotransmission in a Dravet Syndrome Mouse Model.bioRxiv : the preprint server for biology · 2026Article
- Ameliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies.CNS drugs · 2026Review
- The impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome.bioRxiv : the preprint server for biology · 2026Article
- Input-and cell-type-specific developmental alterations to thalamic synapses in a Dravet syndrome mouse model.bioRxiv : the preprint server for biology · 2026Article
- Engineering a human-based translational activator for targeted protein expression restoration.Nucleic acids research · 2026Article
- cGAS-mediated IFN-I signaling contributes to disease progression in drug-refractory epilepsy.bioRxiv : the preprint server for biology · 2026Article
- Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome.bioRxiv : the preprint server for biology · 2026Article
- Nanoparticle-encapsulated neuropeptide Y provides robust seizure protection in SCN1A-derived epilepsy.Epilepsia · 2026Article
- Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.JCI insight · 2025Article
- Medial septum parvalbumin-expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome.Epilepsia · 2025Article
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Dysregulation of the Cannabinoid System in Childhood Epilepsy: From Mechanisms to Therapy.International journal of molecular sciences · 2025Review
- Interneurons exhibit attenuated ectopic action potential firing in a severe neurodevelopmental disorder.Journal of neurophysiology · 2025Article
- Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.Translational psychiatry · 2025Review
63 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Epilepsy is a common neurological disorder affecting approximately 1% of the population. Mutations in voltage-gated sodium channels are responsible for several monogenic epilepsy syndromes. More than 800 mutations in the voltage-gated sodium channel SCN1A have been reported in patients with generalized epilepsy with febrile seizures plus and Dravet syndrome. Heterozygous loss-of-function mutations in SCN1A result in Dravet syndrome, a severe infant-onset epileptic encephalopathy characterized by intractable seizures, developmental delays and increased mortality. A common feature of monogenic epilepsies is variable expressivity among individuals with the same mutation, suggesting that genetic modifiers may influence clinical severity. Mice with heterozygous deletion of Scn1a (Scn1a(+/-) ) model a number of Dravet syndrome features, including spontaneous seizures and premature lethality. Phenotype severity in Scn1a(+/-) mice is strongly dependent on strain background. On the 129S6/SvEvTac strain Scn1a(+/-) mice exhibit no overt phenotype, whereas on the (C57BL/6J × 129S6/SvEvTac)F1 strain Scn1a(+/-) mice exhibit spontaneous seizures and early lethality. To systematically identify loci that influence premature lethality in Scn1a(+/-) mice, we performed genome scans on reciprocal backcrosses. Quantitative trait locus mapping revealed modifier loci on mouse chromosomes 5, 7, 8 and 11. RNA-seq analysis of strain-dependent gene expression, regulation and coding sequence variation provided a list of potential functional candidate genes at each locus. Identification of modifier genes that influence survival in Scn1a(+/-) mice will improve our understanding of the pathophysiology of Dravet syndrome and may suggest novel therapeutic strategies for improved treatment of human patients.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.