ArticleBMC pediatrics2021
A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.
Article in BMC pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Genetic landscape of patients with atypical absence status epilepticus: A systematic review.Epilepsia open · 2026Pooled it
- 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
- Molecular basis of neurosteroid and anticonvulsant regulation of TRPM3.Nature structural & molecular biology · 2025Article
- Phenotype Spectrum of TRPM3-Associated Disorders.Annals of neurology · 2025Article
- TRP channels in epileptogenesis: calcium dysregulation mechanisms and pharmacological targeting strategies.Frontiers in molecular neuroscience · 2025Review
- GABAJournal of neurochemistry · 2024Review
- Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.Frontiers in pediatrics · 2024Article
- De novoCold Spring Harbor molecular case studies · 2023Article
- Pharmacologically targeting transient receptor potential channels for seizures and epilepsy: Emerging preclinical evidence of druggability.Pharmacology & therapeutics · 2023Review
- Article
- Genetic Variants Relate to Fasting Plasma Glucose, 2-Hour Postprandial Glucose, Glycosylated Hemoglobin, and BMI in Prediabetes.Frontiers in endocrinology · 2022Article
- Partial Agonistic Actions of Sex Hormone Steroids on TRPM3 Function.International journal of molecular sciences · 2021Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundDevelopmental and epileptic encephalopathies (DEEs) are a heterogeneous group of chronic encephalopathies characterized by epilepsy with comorbid intellectual disability that are frequently associated with de novo nonsynonymous coding variants in ion channels, cell-surface receptors, and other neuronally expressed genes. Mutations in TRPM3 were identified as the cause of DEE. We report a novel patient with DEE carrying a de novo missense mutation in TRPM3, p.(S1202T); this missense mutation has never been reported. CASE PRESENTATION: A 7-year and 2-month-old Chinese patient who had recurrent polymorphic seizures was clinically diagnosed with DEE. A de novo missense mutation in TRPM3, which has not yet been reported, was identified in this case. The patient had a clinical phenotype consistent with previous reports.
conclusionsThese findings could expand the spectrum of TRPM3 mutations and might also support that de novo substitutions of TRPM3 are a cause of DEE.
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