Phenotype Spectrum of TRPM3-Associated Disorders.

ABSTRACT:

Objective

Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods

We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22). We included all patients with a pathogenic TRPM3 variant.

Results

The median age at the time of the study was 10 years, with a preponderance of girls (60%) versus boys (40%). Frequent findings were de

SUBMITTER: Jolitz L 

PROVIDER: S-EPMC11831877 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature