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
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
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