Associated Papers
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L et al.
Annals of Neurology, 2025
Primidone improves symptoms in TRPM3-linked developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Becker LL et al.
Epilepsia, 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
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