ArticleGenesis (New York, N.Y. : 2000)2014
Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a.
Article in Genesis (New York, N.Y. : 2000), 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- 2015 Guidelines for Establishing Genetically Modified Rat Models for Cardiovascular Research.Journal of cardiovascular translational research · 2015Guideline
- Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.The Journal of clinical investigation · 2026Article
- Implication of genetic-dependent stage in the development ofFrontiers in human neuroscience · 2026Article
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- Allele-Specific Editing of a Dominant SCN8A Epilepsy Variant Protects against Seizures and Lethality in a Murine Model.Annals of neurology · 2024Article
- Parvalbumin interneuron impairment causes synaptic transmission deficits and seizures in SCN8A developmental and epileptic encephalopathy.JCI insight · 2024Article
- Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy.Neurobiology of disease · 2024Article
- Gene therapy for CNS disorders: modalities, delivery and translational challenges.Nature reviews. Neuroscience · 2024Review
- Nanoparticle-mediated delivery of non-viral gene editing technology to the brain.Progress in neurobiology · 2024Review
- Review
- Astrocyte reactivity in a mouse model of SCN8A epileptic encephalopathy.Epilepsia open · 2022Article
- Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy.Neurobiology of disease · 2021Review
- SCN8A encephalopathy: Mechanisms and models.Epilepsia · 2019Review
- Prominent role of forebrain excitatory neurons in SCN8A encephalopathy.Brain : a journal of neurology · 2019Article
- Applications of Genome Editing Technology in Animal Disease Modeling and Gene Therapy.Computational and structural biotechnology journal · 2019Review
- An update on the tools for creating transgenic animal models of human diseases - focus on atherosclerosis.Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica · 2019Review
- Article
- The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy.Epilepsia · 2018Article
- Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- Neuronal hyperexcitability in a mouse model ofProceedings of the National Academy of Sciences of the United States of America · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
To evaluate the efficiency of TALEN technology for introducing mutations into the mouse genome we targeted Scn8a, a member of a multigene family with nine closely related paralogs. Our goal was to generate a model of early onset epileptic encephalopathy by introduction of the Scn8a missense mutation p.Asn1768Asp. We used a pair of TALENs that were highly active in transfected cells. The targeting template for homologous recombination contained a 4 kb genomic fragment. Microinjection of TALENs with the targeting construct into the pronucleus of 350 fertilized mouse eggs generated 67 live-born potential founders, of which 5 were heterozygous for the pathogenic mutation, a yield of 7% correctly targeted mice. Twenty-four mice carried one or two Scn8a indels, including 12 frameshift mutations and the novel amino acid deletion p.Asn1759del. Nine off-site mutations in the paralogs sodium channel genes Scn5a and Scn4a were identified. The data demonstrate the feasibility and efficiency of targeting members of multigene families using TALENs. The Scn8a(tm) (1768DMm) mouse model will be useful for investigation of the pathogenesis and therapy of early onset seizure disorders.
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Registered trials
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.