ArticleEpilepsia2008
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.
Article in Epilepsia, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 101 citations in OpenAlex.
- Article
- Nanoscale organization in the cell membrane dynamically modulates the biophysics of voltage-gated sodium channels.Nature communications · 2026Article
- Review
- Development and Adaptive Function in Individuals WithNeurology · 2025Article
- Oxcarbazepine may be an effective option for Chinese pediatric patients with self-limited focal epilepsy of neonatal/infantile onset: a retrospective cohort study.Frontiers in pediatrics · 2025Article
- DecipheringArXiv · 2024Article
- Therapeutic efficacy of voltage-gated sodium channel inhibitors in epilepsy.Acta epileptologica · 2023Review
- Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.Communications biology · 2022Article
- Article
- Kinetic and thermodynamic modeling of a voltage-gated sodium channel.European biophysics journal : EBJ · 2022Article
- Pharmacological determination of the fractional block of Nav channels required to impair neuronal excitability andFrontiers in cellular neuroscience · 2022Article
- Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2021Article
- Sodium channelopathies of skeletal muscle and brain.Physiological reviews · 2021Review
- Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.Frontiers in neurology · 2021Review
- The neonatal SCN2A mutant channel mimics adult channel properties.The Journal of general physiology · 2020Article
- Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.The Journal of general physiology · 2020Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.Molecular medicine (Cambridge, Mass.) · 2019Article
- Location: A surrogate for personalized treatment of sodium channelopathies.Annals of neurology · 2018Article
- Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms ofProceedings of the National Academy of Sciences of the United States of America · 2018Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
purposeMutations in SCN2A, the gene encoding the brain voltage-gated sodium channel alpha-subunit Na(V)1.2, are associated with inherited epilepsies including benign familial neonatal-infantile seizures (BFNIS). Functional characterization of three BFNIS mutations was performed to identify defects in channel function that underlie this disease.
methodsWe examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. Membrane biotinylation was employed to examine the cell surface protein expression of the four Na(V)1.2 alleles.
resultsR1319Q displayed mixed effects on activation and fast inactivation gating, consistent with a net loss of channel function. L1563V exhibited impaired fast inactivation predicting a net gain of channel function. The L1330F mutation significantly decreased overall channel availability during repetitive stimulation. Patch-clamp analysis also revealed that cells expressing BFNIS mutants exhibited lower levels of sodium current compared to wild type (WT) Na(V)1.2. Biochemical experiments demonstrated that all three BFNIS mutations exhibited a significant reduction in cell surface expression compared to WT. DISCUSSION: Our findings indicate that BFNIS is associated with a range of biophysical defects accompanied by reduced levels of channel protein at the plasma membrane.
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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.