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Phenotype Spectrum of TRPM3-Associated Disorders.

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Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) cause neurodevelopmental disorders, primarily epilepsy. The TRPM3 channel blocker primidone effectively improved seizures and development in affected children.

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Area of Science:

  • Neurogenetics
  • Epileptology
  • Developmental Neuroscience

Background:

  • Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) are linked to neurodevelopmental disorders.
  • Limited information exists regarding the full clinical spectrum and treatment efficacy for TRPM3-related conditions.

Purpose of the Study:

  • To characterize the clinical manifestations of TRPM3 variants, focusing on epilepsy.
  • To evaluate the effectiveness of various treatments, particularly for seizure control and developmental outcomes.

Main Methods:

  • Retrospective analysis of phenotypes and genotypes from 43 individuals with pathogenic TRPM3 variants.
  • Data sourced from GeneMatcher, collaborations, and a systematic literature search.

Main Results:

  • The cohort (median age 10 years, 60% female) frequently presented with developmental delay/intellectual disability (93%), hypotonia (77%), ocular (70%), and musculoskeletal anomalies (65%).
  • Epilepsy, specifically developmental and epileptic encephalopathy (DEE/DEE-SWAS), affected 72% of patients. The p.Val1002Met variant was associated with higher rates of developmental delay and epilepsy.
  • Primidone demonstrated significant efficacy, improving seizure frequency and enhancing motor, speech, and learning capabilities in all treated patients.

Conclusions:

  • Developmental delay/intellectual disability and epilepsy are hallmark features of TRPM3 variants.
  • Early screening for neurological abnormalities and prompt intervention are crucial, given epilepsy's impact on development.
  • Primidone, a TRPM3 channel blocker, shows promise and should be considered for managing TRPM3 gain-of-function variants.