Associated Papers
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
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
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
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
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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