This website provides information on patients with mutations in the TRPM3gene, including clinical data, molecular data, management and research options.
Mutations in the TRPM3gene can cause a spectrum of neurological and neurodevelopmental disorders. Frequently identified features in patients with TRPM3-dependent disorder are intellectual disability, developmental delay, epilepsy (often drug-resistant), hypotonia, and impaired motor coordination. Altered temperature or pain sensitivity, autism features, skeletal malformations, ocular abnormalities, and structural brain anomalies are also reported. Not all individuals with a mutation in the TRPM3gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the TRPM3gene.
Joris Vriens, PhD, Professor, KU Leuven, Leuven, Belgium, Joris.Vriens@kuleuven.be
Thomas Voets, PhD, Professor, VIB - KU Leuven, Leuven, Belgium, Thomas.Voets@kuleuven.be