ArticleeLife2020
Gain of channel function and modified gating properties in TRPM3 mutants causing intellectual disability and epilepsy.
Article in eLife, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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Who cites it
30 citing papers in PubMed, 58 citations in OpenAlex.
- Stereoselectivity and functional plasticity of a common ligand-binding pocket in TRPM3.Nature communications · 2026Article
- A duo of redox-sensitive pore-loop cysteines controls the activity of the neural ion channel TRPM3.Communications chemistry · 2026Article
- Structural basis for agonist and heat activation of nociceptor TRPM3.Nature structural & molecular biology · 2026Article
- Renal TRPM3 Channels Regulate Blood Pressure via Tubuloglomerular Feedback and Plasma Volume Control.Hypertension (Dallas, Tex. : 1979) · 2025Article
- Physiological functions and pharmacological targeting of transient receptor potential channels.Pharmacological reviews · 2025Review
- Molecular basis of neurosteroid and anticonvulsant regulation of TRPM3.Nature structural & molecular biology · 2025Article
- Phenotype Spectrum of TRPM3-Associated Disorders.Annals of neurology · 2025Article
- Sex difference in TRPM3 channel functioning in nociceptive and vascular systems: an emerging target for migraine therapy in females?The journal of headache and pain · 2025Review
- Thermo-TRP regulation by endogenous factors and its physiological function at core body temperature.Physiological reports · 2025Review
- TRP channels in epileptogenesis: calcium dysregulation mechanisms and pharmacological targeting strategies.Frontiers in molecular neuroscience · 2025Review
- TRPM3, TRPM4, and TRPM5 as thermo-sensitive channels.The journal of physiological sciences : JPS · 2024Review
- Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.Journal of neurology · 2024Review
- TRPM channels in health and disease.Nature reviews. Nephrology · 2024Review
- Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.Frontiers in pediatrics · 2024Article
- Slick potassium channels limit TRPM3-mediated activation of sensory neurons.Frontiers in pharmacology · 2024Article
- Pharmacologically targeting transient receptor potential channels for seizures and epilepsy: Emerging preclinical evidence of druggability.Pharmacology & therapeutics · 2023Review
- Article
- Targeting TRP channels: recent advances in structure, ligand binding, and molecular mechanisms.Frontiers in molecular neuroscience · 2023Review
- Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused byHGG advances · 2022Article
- A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of disorders characterized by epilepsy with comorbid intellectual disability. Recently, two de novo heterozygous mutations in the gene encoding TRPM3, a calcium permeable ion channel, were identified as the cause of DEE in eight probands, but the functional consequences of the mutations remained elusive. Here we demonstrate that both mutations (V990M and P1090Q) have distinct effects on TRPM3 gating, including increased basal activity, higher sensitivity to stimulation by the endogenous neurosteroid pregnenolone sulfate (PS) and heat, and altered response to ligand modulation. Most strikingly, the V990M mutation affected the gating of the non-canonical pore of TRPM3, resulting in large inward cation currents via the voltage sensor domain in response to PS stimulation. Taken together, these data indicate that the two DEE mutations in TRPM3 result in a profound gain of channel function, which may lie at the basis of epileptic activity and neurodevelopmental symptoms in the patients.
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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.