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

Disorders caused by mutations in the MTOR gene include the following:

• Focal brain malformations including hemimegalencephaly (HMEG) and focal cortical dysplasia (FCD)

• Diffuse megalencephaly (MEG) with polymicrogyria with pigmentary abnormalities of the skin

• Diffuse megalencephaly without cortical dysplasia

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 MTOR gene.

Ghayda Mirzaa, MD, University of Washington School of Medicine, Seattle, Washington, USA, Ghayda.mirzaa@seattlechildrens.org

William B. Dobyns, MD, University of Washington School of Medicine, Seattle, Washington, USA, wbd@uw.edu