ArticleProceedings of the National Academy of Sciences of the United States of America2011
Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 93 citations in OpenAlex.
- Targeted Sequencing and Haplotype Analysis of Voltage-Gated Potassium Channel Genes Reveal a Potential Association ofPharmaceuticals (Basel, Switzerland) · 2026Article
- Bayesian Population-Based Prevalence Estimation ofInternational journal of molecular sciences · 2026Article
- The accumulation of extracellular KScientific reports · 2025Article
- Transgenic mouse models of sodium and potassium channelopathies in epilepsy: insights into disease mechanisms and therapeutics.Bioscience reports · 2025Review
- A Kv2 inhibitor combination reveals native neuronal conductances consistent with Kv2/KvS heteromers.eLife · 2025Article
- Regulation of Kv2.1 Channels by Kv9.1 Variants.Biomedicines · 2025Article
- Cyclosporine A Accelerates Neurorecovery Transcriptional Trajectory in a Swine Model of Diffuse Traumatic Brain Injury.International journal of molecular sciences · 2025Article
- The Electrically Silent Kv5.1 Subunit Forms Heteromeric Kv2 Channels in Cortical Neurons and Confers Distinct Functional Properties.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Association of Voltage-Gated Potassium Channel Polymorphisms with the Risk and Prognosis of Epilepsy in the Saudi Population: A Case-Control Study.Medicina (Kaunas, Lithuania) · 2025Article
- Retinal Sensitivity in KCNV2-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Structural and functional characterization of an individual with the M285ROphthalmic genetics · 2024Article
- A versatile functional interaction between electrically silent KCellular and molecular life sciences : CMLS · 2024Article
- SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.Brain : a journal of neurology · 2023Article
- Adam, amigo, brain, and K channel.Biophysical reviews · 2023Review
- The Roles of Potassium and Calcium Currents in the Bistable Firing Transition.Brain sciences · 2023Article
- Clarifying the composition of the ATP consumption factors required for maintaining ion homeostasis in mouse rod photoreceptors.Scientific reports · 2023Article
- The Role of Potassium and Calcium Currents in the Bistable Firing Transition.bioRxiv : the preprint server for biology · 2023Article
- Strain-dependent effects on neurobehavioral and seizure phenotypes inbioRxiv : the preprint server for biology · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- Differential impact of Kv8.2 loss on rod and cone signaling and degeneration.Human molecular genetics · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in voltage-gated ion channels are responsible for several types of epilepsy. Genetic epilepsies often exhibit variable severity in individuals with the same mutation, which may be due to variation in genetic modifiers. The Scn2a(Q54) transgenic mouse model has a sodium channel mutation and exhibits epilepsy with strain-dependent severity. We previously mapped modifier loci that influence Scn2a(Q54) phenotype severity and identified Kcnv2, encoding the voltage-gated potassium channel subunit Kv8.2, as a candidate modifier. In this study, we demonstrate a threefold increase in hippocampal Kcnv2 expression associated with more severe epilepsy. In vivo exacerbation of the phenotype by Kcnv2 transgenes supports its identification as an epilepsy modifier. The contribution of KCNV2 to human epilepsy susceptibility is supported by identification of two nonsynonymous variants in epilepsy patients that alter function of Kv2.1/Kv8.2 heterotetrameric potassium channels. Our results demonstrate that altered potassium subunit function influences epilepsy susceptibility and implicate Kcnv2 as an epilepsy gene.
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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.