ArticleNeuron2010
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome.
Article in Neuron, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 209 papers, 1 of them a synthesis that pooled it.
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Who cites it
209 citing papers in PubMed, 1 synthesis or guideline pooled it, 433 citations in OpenAlex.
- Enterochromaffin Cells: Sentinels to Gut Microbiota in Hyperalgesia?Frontiers in cellular and infection microbiology · 2021Pooled it
- Consequences of a human TRPA1 genetic variant on the perception of nociceptive and olfactory stimuli.PloS one · 2014Trial
- Effect sizes in experimental pain produced by gender, genetic variants and sensitization procedures.PloS one · 2011Trial
- Functional and molecular diversity of human C-fibers in pain modulation.Current opinion in supportive and palliative care · 2026Review
- Machine Learning-Derived Neural Signatures of Itch and Pain That Reliably Distinguish the Two Sensations in Humans: A Proof-Of-Concept Study.European journal of pain (London, England) · 2026Article
- Resveratrol for Cancer Radio-Sensitization: Ready for Prime Time or Future Perspective.Food science & nutrition · 2026Review
- 5'untranslated regions provide a versatile toolkit for tunable exogenous protein expression.Molecular biology of the cell · 2026Article
- Mapping the Extended Pain Pathway: Human Genetic and Multi-Omic Strategies for Next-Generation Analgesics.International journal of molecular sciences · 2026Review
- Drafting the calmodulation playbook: Emerging structural insights into transient receptor potential channel regulation by calmodulin.The Journal of physiology · 2026Review
- Article
- The intrinsic reason why it is relevant to introduce the concept of "small fiber neuralgia" into the taxonomy of pain disorders.Frontiers in pain research (Lausanne, Switzerland) · 2026Article
- Tooth Pulp Afferents and Transient Receptor Potential (TRP) Ion Channels as Key Regulators of Pulp Homeostasis, Inflammation, and Pain.International journal of molecular sciences · 2025Review
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- Nonsteroidal Anti-Inflammatory Drugs as Modulators of Cation Channels: Fenamates Repurposing in Channelopathies.ChemMedChem · 2025Review
- Activation of TRPA1 and TRPM3 triggers CaThe Journal of physiology · 2025Article
- Calmodulin binding is required for calcium mediated TRPA1 desensitization.Nature communications · 2025Article
- Identification of Phialomustin‑B (PHL-B) as a Novel Natural TRPA1 Channel Inhibitor.ACS omega · 2025Article
- Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review.Pediatric research · 2025Article
- Review
- Pinosylvin: A Multifunctional Stilbenoid with Antimicrobial, Antioxidant, and Anti-Inflammatory Potential.Current issues in molecular biology · 2025Review
149 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 5 institutions in 3 countries.
Funding
Abstract
Human monogenic pain syndromes have provided important insights into the molecular mechanisms that underlie normal and pathological pain states. We describe an autosomal-dominant familial episodic pain syndrome characterized by episodes of debilitating upper body pain, triggered by fasting and physical stress. Linkage and haplotype analysis mapped this phenotype to a 25 cM region on chromosome 8q12-8q13. Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane segment of TRPA1, a key sensor for environmental irritants. The mutant channel showed a normal pharmacological profile but altered biophysical properties, with a 5-fold increase in inward current on activation at normal resting potentials. Quantitative sensory testing demonstrated normal baseline sensory thresholds but an enhanced secondary hyperalgesia to punctate stimuli on treatment with mustard oil. TRPA1 antagonists inhibit the mutant channel, promising a useful therapy for this disorder. Our findings provide evidence that variation in the TRPA1 gene can alter pain perception in humans.
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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.