This website provides information on patients with mutations in the DNM1L gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DNM1L gene is a multisystem disorder characterized by global developmental delay, epilepsy, acute encephalopathy, cardiomyopathy, dystonia, ataxia, peripheral neuropathy, autonomic dysfunction.

Not all individuals with a mutation in the DNM1L gene 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 DNM1L (DRP1) gene.

Gabriella Horvath, MD, PhD, University of British Columbia, Vancouver, BC, Canada, Gabriella.Horvath@cw.bc.ca

Ann Saada, PhD, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel, ann.saadareisch@mail.huji.ac.il