Associated Papers
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L et al.
Annals of Neurology, 2025
39749750 (PubMed )
Supplement: ANA-97-561-s001.docx
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
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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