ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2012
A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
68 citing papers in PubMed, 89 citations in OpenAlex.
- Epilepsy-associated digenic variants affecting an actin/mitochondria/glutamate pathway promote seizure susceptibility.The Journal of clinical investigation · 2026Article
- Temporal and Cell-Specific Regulation of Synaptic Homeostasis by the Chromatin Remodeler Chd1.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Prime editing of a pathogenicScience translational medicine · 2026Article
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- Dysregulation of Glial Gap Junction Protein Innexin2 Mediates Seizures and Disrupted Sleep in a Drosophila Model for North Sea Progressive Myoclonus Epilepsy.Journal of neuroscience research · 2025Article
- Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.Disease models & mechanisms · 2025Article
- Automated identification of ataxia and convulsions in hyperexcitablebioRxiv : the preprint server for biology · 2025Article
- Drosophila melanogaster as a rapid in vivo assay system for preclinical anti-seizure medication testing.Epilepsia open · 2025Article
- Association between wet-bulb globe temperature and epilepsy: a space-time-stratified case-crossover study in Taiwan.Tropical medicine and health · 2025Article
- Automated identification of ataxia and convulsions in hyperexcitablemicroPublication biology · 2025Article
- Replication of seizure-suppressing effects of alpha-linolenic acid on themicroPublication biology · 2025Article
- Review
- Glial expression of Drosophila UBE3A causes spontaneous seizures that can be modulated by 5-HT signaling.Neurobiology of disease · 2024Article
- Commensal bacteria exacerbate seizure-like phenotypes in Drosophila voltage-gated sodium channel mutants.Genes, brain, and behavior · 2024Article
- The Influence of Climatic Factors on the Provocation of Epileptic Seizures.Journal of clinical medicine · 2024Article
- De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.American journal of human genetics · 2024Article
- Dietary Supplementation with Milk Lipids Leads to Suppression of Developmental and Behavioral Phenotypes of Hyperexcitable Drosophila Mutants.Neuroscience · 2023Article
- Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.Cerebellum (London, England) · 2023Article
- AnFrontiers in neurology · 2023Article
- Efficient strategies based on behavioral and electrophysiological methods for epilepsy-related gene screening in theFrontiers in molecular neuroscience · 2023Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). Inheritance of GEFS+ is dominant, but the underlying cellular mechanisms remain poorly understood. Here we report that knock-in of a GEFS+ SCN1A mutation (K1270T) into the Drosophila sodium channel gene, para, causes a semidominant temperature-induced seizure phenotype. Electrophysiological studies of GABAergic interneurons in the brains of adult GEFS+ flies reveal a novel cellular mechanism underlying heat-induced seizures: the deactivation threshold for persistent sodium currents reversibly shifts to a more negative voltage when the temperature is elevated. This leads to sustained depolarizations in GABAergic neurons and reduced inhibitory activity in the central nervous system. Furthermore, our data indicate a natural temperature-dependent shift in sodium current deactivation (exacerbated by mutation) may contribute to febrile seizures in GEFS+ and perhaps normal individuals.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.