ArticlePLoS genetics2007
Complex seizure disorder caused by Brunol4 deficiency in mice.
Article in PLoS genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Adaptation of the Porcine Pituitary Transcriptome, Spliceosome and Editome during Early Pregnancy.International journal of molecular sciences · 2023Pooled it
- CELF family of RNA-binding proteins: roles in disease biology and potential for therapeutic intervention.Cell communication and signaling : CCS · 2026Review
- Celf4 Regulates Excitability of Bushy Cells in the Cochlear Nucleus of the Mouse Brainstem.Cellular and molecular neurobiology · 2026Article
- The RNA-binding protein CELF4: from molecular regulatory networks to clinical translation in cross-system diseases.Frontiers in molecular biosciences · 2026Review
- Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.European journal of human genetics : EJHG · 2025Article
- Altered CELF4 splicing factor enhances pancreatic neuroendocrine tumors aggressiveness influencing mTOR and everolimus response.Molecular therapy. Nucleic acids · 2024Article
- Axonal mRNA translation in neurological disorders.RNA biology · 2021Review
- Absence of RNA-binding protein FXR2P prevents prolonged phase of kainate-induced seizures.EMBO reports · 2021Article
- Genome-wide scan for selection signatures reveals novel insights into the adaptive capacity in local North African cattle.Scientific reports · 2020Article
- Comprehensive transcriptome analysis of cochlear spiral ganglion neurons at multiple ages.eLife · 2020Article
- PRAS: Predicting functional targets of RNA binding proteins based on CLIP-seq peaks.PLoS computational biology · 2019Article
- Haploinsufficiency of ARHGAP42 is associated with hypertension.European journal of human genetics : EJHG · 2019Article
- Human genes influence the interaction between Streptococcus mutans and host caries susceptibility: a genome-wide association study in children with primary dentition.International journal of oral science · 2019Article
- meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays.PLoS computational biology · 2018Article
- PUF60-activated exons uncover altered 3' splice-site selection by germline missense mutations in a single RRM.Nucleic acids research · 2018Article
- p53-Sensitive Epileptic Behavior and Inflammation inFrontiers in genetics · 2018Article
- Models and detection of spontaneous recurrent seizures in laboratory rodents.Zoological research · 2017Review
- Quantitative Nucleotide Level Analysis of Regulation of Translation in Response to Depolarization of Cultured Neural Cells.Frontiers in molecular neuroscience · 2017Article
- Article
- RNA-binding proteins, neural development and the addictions.Genes, brain, and behavior · 2016Review
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6 authors.
Funding
Abstract
Idiopathic epilepsy is a common human disorder with a strong genetic component, usually exhibiting complex inheritance. We describe a new mouse mutation in C57BL/6J mice, called frequent-flyer (Ff), in which disruption of the gene encoding RNA-binding protein Bruno-like 4 (Brunol4) leads to limbic and severe tonic-clonic seizures in heterozygous mutants beginning in their third month. Younger heterozygous adults have a reduced seizure threshold. Although homozygotes do not survive well on the C57BL/6J background, on mixed backgrounds homozygotes and some heterozygotes also display spike-wave discharges, the electroencephalographic manifestation of absence epilepsy. Brunol4 is widely expressed in the brain with enrichment in the hippocampus. Gene expression profiling and subsequent analysis revealed the down-regulation of at least four RNA molecules encoding proteins known to be involved in neuroexcitability, particularly in mutant hippocampus. Genetic and phenotypic assessment suggests that Brunol4 deficiency in mice results in a complex seizure phenotype, likely due to the coordinate dysregulation of several molecules, providing a unique new animal model of epilepsy that mimics the complex genetic architecture of common disease.
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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.