Associated Papers
Ion Channel Dysregulation in Neurodevelopmental Disorders: Mechanisms, Models, and Therapeutic Advances.
Shi Z et al.
Frontiers in Bioscience (landmark Edition), 2026
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L et al.
Annals of Neurology, 2025
Neurodevelopmental disorders caused by variants in TRPM3.
Roelens R et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2024
Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders.
Pawelak A et al.
Frontiers in Pediatrics, 2024
De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi JC et al.
Cold Spring Harbor Molecular Case Studies, 2023
Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Becker LL et al.
Epilepsia, 2023
Role of novel de novo gain-of-function TRPM3 mutations in a spectrum of neurodevelopmental disorders.
Kashio M et al.
Cell Calcium, 2023
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L et al.
Elife, 2023
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
Lines MA et al.
American Journal of Medical Genetics. Part A, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report.
Kang Q et al.
Bmc Pediatrics, 2021
Confirmation and Expansion of the Phenotype Associated with the Recurrent p.Val837Met Variant in TRPM3.
de Sainte Agathe JM et al.
European Journal of Medical Genetics, 2020
De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
Dyment DA et al.
European Journal of Human Genetics : Ejhg, 2019
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