Analysis reveals broad clinical features of TRPM3 variants and possible treatment options for epilepsy, suggesting the need for improved management strategies.
Background/Purpose: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental delay and epilepsy, including epileptic encephalopathy in small case series. However, an in-depth characterization of the broad phenotype spectrum and treatment options is currently lacking.
No takes yet. Share an insight, caveat, or question.
Becker et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: