ArticleMolecular neurobiology2015
Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.
Article in Molecular neurobiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 32 citations in OpenAlex.
- Structure and Function of Sodium Channel Nav1.3 in Neurological Disorders.Cellular and molecular neurobiology · 2023Review
- A nutraceutical product, extracted from Cannabis sativa, modulates voltage-gated sodium channel function.Journal of cannabis research · 2022Article
- Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants inFrontiers in molecular neuroscience · 2022Article
- Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.Frontiers in neurology · 2021Review
- Critical Role of E1623 Residue in S3-S4 Loop of Nav1.1 Channel and Correlation Between Nature of Substitution and Functional Alteration.Frontiers in molecular neuroscience · 2021Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Epilepsy Is Associated With Dysregulation of Long Non-coding RNAs in the Peripheral Blood.Frontiers in molecular biosciences · 2019Article
- Mutations in SCN3A cause early infantile epileptic encephalopathy.Annals of neurology · 2018Article
- Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Neuroscience bulletin · 2017Review
- SCN3A deficiency associated with increased seizure susceptibility.Neurobiology of disease · 2017Article
- Epileptic Patients are at Risk of Cardiac Arrhythmias: A Novel Approach using QT-nomogram, Tachogram, and Cardiac Restitution Plots.Journal of neurosciences in rural practiceArticle
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the sodium channel gene, SCN1A (NaV1.1), have been linked to a spectrum of epilepsy syndromes, and many of these mutations occur in the pore region of the channel. Electrophysiological characterization has revealed that most SCN1A mutations in the pore region result in complete loss of function. SCN3A mutations have also been identified in patients with epilepsy; however, mutations in this pore region maintain some degree of electrophysiological function. It is thus speculated that compared to SCN3A disruptions, SCN1A mutations have a more pronounced effect on electrophysiological function. In this study, we identified a novel mutation, N302S, in the SCN3A pore region of a child with epilepsy. To investigate if mutations at the pore regions of SCN3A and SCN1A have different impacts on channel function, we studied the electrophysiological properties of N302S in NaV1.3 and its homologous mutation (with the same amino acid substitution) in NaV1.1 (N301S). Functional analysis demonstrated that SCN1A-N301S had no measurable sodium current, indicating a complete loss of function, while SCN3A-N302S slightly reduced channel activity. This observation indicates that the same pore region mutation affects SCN1A more than SCN3A. Our study further revealed a huge difference in electrophysiological function between SCN1A and SCN3A mutations in the pore region; this might explain the more common SCN1A mutations detected in patients with epilepsy and the more severe phenotypes associated with these mutations.
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