This website provides information on patients with mutations in the SLC31A1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the SLC31A1 gene which codes for the copper transporter CTR1 is a multisystem disorder characterized by severe brain damage, causing seizures and profound neurodevelopmental impairment.

At present, only 3 individuals with 2 different mutations have been described, so it might well be that individuals with other mutations in the gene may be affected in a different fashion.

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 SLC31A1 gene.

Christoph Bührer, MD, Charité – Universitätsmedizin Berlin, Dept of Neonatology, Berlin, Germany, christoph.buehrer@charite.de