ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2006
An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36 citing papers in PubMed, 94 citations in OpenAlex.
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.Journal of human genetics · 2024Article
- The role of molecular chaperones in the mechanisms of epileptogenesis.Cell stress & chaperones · 2023Review
- Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.Annals of medicine · 2022Article
- Homozygous SCN1B variants causing early infantile epileptic encephalopathy 52 affect voltage-gated sodium channel function.Epilepsia · 2021Article
- Dravet VariantFrontiers in cellular neuroscience · 2021Article
- AnFrontiers in cell and developmental biology · 2020Article
- Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.The journal of headache and pain · 2019Article
- Small changes in synaptic gain lead to seizure-like activity in neuronal network at criticality.Scientific reports · 2019Article
- Generation and customization of biosynthetic excitable tissues for electrophysiological studies and cell-based therapies.Nature protocols · 2018Article
- [Association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Article
- Impact of Electrode Position on the Elicitation of Sodium Spikes in Retinal Bipolar Cells.Scientific reports · 2017Article
- Identifying and Analyzing Novel Epilepsy-Related Genes Using Random Walk with Restart Algorithm.BioMed research international · 2017Article
- Article
- Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Target-specific IPSC kinetics promote temporal processing in auditory parallel pathways.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Article
- Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibility.Neurobiology of disease · 2013Article
- Pathophysiological role of omega pore current in channelopathies.Frontiers in pharmacology · 2012Article
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8 authors at 2 institutions in 1 country.
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Abstract
Mutations in three voltage-gated sodium channel genes, SCN1A, SCN2A, and SCN1B, and two GABAA receptor subunit genes, GABRG2 and GABRD, have been identified in families with generalized epilepsy with febrile seizures plus (GEFS+). A novel mutation, R859C, in the Nav1.1 sodium channel was identified in a four-generation, 33-member Caucasian family with a clinical presentation consistent with GEFS+. The mutation neutralizes a positively charged arginine in the domain 2 S4 voltage sensor of the Nav1.1 channel alpha subunit. This residue is conserved in mammalian sodium channels as well as in sodium channels from lower organisms. When the mutation was placed in the rat Nav1.1 channel and expressed in Xenopus oocytes, the mutant channel displayed a positive shift in the voltage dependence of sodium channel activation, slower recovery from slow inactivation, and lower levels of current compared with the wild-type channel. Computational analysis suggests that neurons expressing the mutant channel have higher thresholds for firing a single action potential and for firing multiple action potentials, along with decreased repetitive firing. Therefore, this mutation should lead to decreased neuronal excitability, in contrast to most previous GEFS+ sodium channel mutations, which have changes predicted to increase neuronal firing.
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