This website provides information on patients with mutations in the MDGA2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the MDGA2 gene is a severe neurological autosomal recessive disorder, characterized by early-onset intractable seizures, severe global neurodevelopmental delay, infantile hypotonia, and progressive brain atrophy. A recognisable pattern of facial features is also observed in most affected individuals.

Not all individuals with a mutation in the MDGA2 gene have all 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 MDGA2 gene.

Heba Morsy, MB BCh, PhD, UCL Queen Square Institute of Neurology, London, United Kingdom, heba.morsy@ucl.ac.uk
Jaewon Ko, PhD, Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu, South Korea, jaewonko@dgist.ac.kr