ArticlePloS one2011
Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 44 citations in OpenAlex.
- Photosensitive response mouse model: A potential tool for studying mechanisms of photosensitive epilepsy and initial screening of anti-epileptic drugs.The Journal of physiology · 2026Article
- A review of genetic variation underlying chicken phenotypic diversity.Poultry science · 2025Review
- Review
- Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Human genomics · 2024Article
- GEGA (Gallus Enriched Gene Annotation): an online tool providing genomics and functional information across 47 tissues for a chicken gene-enriched atlas gathering Ensembl and Refseq genome annotations.NAR genomics and bioinformatics · 2024Article
- Enriched atlas of lncRNA and protein-coding genes for the GRCg7b chicken assembly and its functional annotation across 47 tissues.Scientific reports · 2024Article
- Elevated photic response is followed by a rapid decay and depressed state in ictogenic networks.Epilepsia · 2022Article
- Perspective: Chicken Models for Studying the Ontogenetic Origin of Neuropsychiatric Disorders.Biomedicines · 2022Article
- Synaptic Vesicle Glycoprotein 2A: Features and Functions.Frontiers in neuroscience · 2022Review
- Expression of Circ_Satb1 Is Decreased in Mesial Temporal Lobe Epilepsy and Regulates Dendritic Spine Morphology.Frontiers in molecular neuroscience · 2022Article
- Connectivity Mapping Using a NovelFrontiers in molecular neuroscience · 2022Article
- AEpilepsy & behavior reports · 2021Article
- The Effect of Anti-seizure Medications on the Propagation of Epileptic Activity: A Review.Frontiers in neurology · 2021Review
- Sequence properties of certain GC rich avian genes, their origins and absence from genome assemblies: case studies.BMC genomics · 2019Article
- The Synaptic Vesicle Glycoprotein 2: Structure, Function, and Disease Relevance.ACS chemical neuroscience · 2019Review
- Development and In Vivo Preclinical Imaging of Fluorine-18-Labeled Synaptic Vesicle Protein 2A (SV2A) PET Tracers.Molecular imaging and biology · 2019Article
- Immunochemical analysis of the expression of SV2C in mouse, macaque and human brain.Brain research · 2019Article
- Reflex epilepsy: triggers and management strategies.Neuropsychiatric disease and treatment · 2018Review
- Origins of Knowledge: Insights from Precocial Species.Frontiers in behavioral neuroscience · 2015Review
- Prediction of gene-phenotype associations in humans, mice, and plants using phenologs.BMC bioinformatics · 2013Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games. This is the most common reflex epilepsy in humans; it is characterized by the photoparoxysmal response, which is an abnormal electroencephalographic reaction, and seizures triggered by intermittent light stimulation. Here, by using genetic mapping, sequencing and functional analyses, we report that a mutation in the acceptor site of the second intron of SV2A (the gene encoding synaptic vesicle glycoprotein 2A) is causing photosensitive reflex epilepsy in a unique vertebrate model, the Fepi chicken strain, a spontaneous model where the neurological disorder is inherited as an autosomal recessive mutation. This mutation causes an aberrant splicing event and significantly reduces the level of SV2A mRNA in homozygous carriers. Levetiracetam, a second generation antiepileptic drug, is known to bind SV2A, and SV2A knock-out mice develop seizures soon after birth and usually die within three weeks. The Fepi chicken survives to adulthood and responds to levetiracetam, suggesting that the low-level expression of SV2A in these animals is sufficient to allow survival, but does not protect against seizures. Thus, the Fepi chicken model shows that the role of the SV2A pathway in the brain is conserved between birds and mammals, in spite of a large phylogenetic distance. The Fepi model appears particularly useful for further studies of physiopathology of reflex epilepsy, in comparison with induced models of epilepsy in rodents. Consequently, SV2A is a very attractive candidate gene for analysis in the context of both mono- and polygenic generalized epilepsies in humans.
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