ArticleScientific reports2016
Temperature-dependent changes in neuronal dynamics in a patient with an SCN1A mutation and hyperthermia induced seizures.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 36 citations in OpenAlex.
- Compensation of the effects of temperature on a motor system in the crab,bioRxiv : the preprint server for biology · 2026Article
- Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.Cells · 2025Article
- Depolarization block induction via slow NaScientific reports · 2025Article
- Medications, epilepsy and climate change: Added layers of complexity.British journal of clinical pharmacology · 2025Review
- Association between wet-bulb globe temperature and epilepsy: a space-time-stratified case-crossover study in Taiwan.Tropical medicine and health · 2025Article
- Imperatives and co-benefits of research into climate change and neurological disease.Nature reviews. Neurology · 2025Review
- The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy.Brain communications · 2024Article
- Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report.Neuropediatrics · 2023Article
- Cold and warmth intensify pain-linked sodium channel gating effects and persistent currents.The Journal of general physiology · 2023Article
- Non-psychotropic phytocannabinoid interactions with voltage-gated sodium channels: An update on cannabidiol and cannabigerol.Frontiers in physiology · 2022Review
- The L1624Q Variant inFrontiers in pharmacology · 2021Article
- Dravet VariantFrontiers in cellular neuroscience · 2021Article
- Persistent sodium currents inBrain communications · 2021Article
- Climate change and epilepsy: Time to take action.Epilepsia open · 2019Review
- Case studies in neuroscience: a novel amino acid duplication in the NHJournal of neurophysiology · 2019Article
- Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks.Frontiers in cellular neuroscience · 2019Review
- Canonical Transient Receptor Potential Channel 3 Contributes to Febrile Seizure Inducing Neuronal Cell Death and Neuroinflammation.Cellular and molecular neurobiology · 2018Article
- Differential roles of NaScientific reports · 2018Article
- Network dynamics in the healthy and epileptic developing brain.Network neuroscience (Cambridge, Mass.) · 2018Article
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies. It is characterised by prolonged seizures, typically provoked by fever. We describe the evaluation of an SCN1A mutation in a child with early-onset temperature-sensitive seizures. The patient carries a heterozygous missense variant (c3818C > T; pAla1273Val) in the NaV1.1 brain sodium channel. We compared the functional effects of the variant vs. wild type NaV1.1 using patch clamp recordings from channels expressed in Chinese Hamster Ovary Cells at different temperatures (32, 37, and 40 °C). The variant channels produced a temperature-dependent destabilization of activation and fast inactivation. Implementing these empirical abnormalities in a computational model predicts a higher threshold for depolarization block in the variant, particularly at 40 °C, suggesting a failure to autoregulate at high-input states. These results reveal direct effects of abnormalities in NaV1.1 biophysical properties on neuronal dynamics. They illustrate the value of combining cellular measurements with computational models to integrate different observational scales (gene/channel to patient).
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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.