ArticleThe European journal of neuroscience2011
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
Article in The European journal of neuroscience, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 61 citations in OpenAlex.
- Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.Biomedicines · 2025Review
- Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report.Molecular biology reports · 2024Article
- Brain expression profiles of twoTranslational neuroscience · 2024Article
- SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.Brain : a journal of neurology · 2023Article
- The effect of alterations of schizophrenia-associated genes on gamma band oscillations.Schizophrenia (Heidelberg, Germany) · 2022Article
- Phenotypic and Genotypic Characteristics ofFrontiers in molecular neuroscience · 2022Article
- The L1624Q Variant inFrontiers in pharmacology · 2021Article
- Differential Modulation of the Voltage-Gated NaFrontiers in molecular biosciences · 2021Article
- A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.Scientific reports · 2020Article
- Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.Frontiers in pharmacology · 2020Review
- Article
- First FHM3 mouse model shows spontaneous cortical spreading depolarizations.Annals of clinical and translational neurology · 2020Article
- Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.Cerebral cortex (New York, N.Y. : 1991) · 2019Article
- Computational Modeling of Genetic Contributions to Excitability and Neural Coding in Layer V Pyramidal Cells: Applications to Schizophrenia Pathology.Frontiers in computational neuroscience · 2019Article
- In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations.PloS one · 2019Article
- Functional Modulation of Voltage-Gated Sodium Channels by a FGF14-Based Peptidomimetic.ACS chemical neuroscience · 2018Article
- Can the combination of hyperthermia, seizures and ion channel dysfunction cause fatal post-ictal cerebral edema in patients with SCN1A mutations?Epilepsy & behavior case reports · 2018Article
- Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.Translational psychiatry · 2017Article
- 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
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures-plus (GEFS+) and Dravet syndrome (DS) have been functionally characterized. In contrast to GEFS+, many mutations detected in DS patients are predicted to have complete loss of function. However, functional consequences are not immediately apparent for DS missense mutations. Therefore, we performed a biophysical analysis of three SCN1A missense mutations (R865G, R946C and R946H) we detected in six patients with DS. Furthermore, we compared the functionality of the R865G DS mutation with that of a R859H mutation detected in a GEFS+ patient; the two mutations reside in the same voltage sensor domain of Na(v) 1.1. The four mutations were co-expressed with β1 and β2 subunits in tsA201 cells, and characterized using the whole-cell patch clamp technique. The two DS mutations, R946C and R946H, were nonfunctional. However, the novel voltage sensor mutants R859H (GEFS+) and R865G (DS) produced sodium current densities similar to those in wild-type channels. Both mutants had negative shifts in the voltage dependence of activation, slower recovery from inactivation, and increased persistent current. Only the GEFS+ mutant exhibited a loss of function in voltage-dependent channel availability. Our results suggest that the R859H mutation causes GEFS+ by a mixture of biophysical defects in Na(v) 1.1 gating. Interestingly, while loss of Na(v) 1.1 function is common in DS, the R865G mutation may cause DS by overall gain-of-function defects.
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