This website provides information on patients with mutations in the GAD1 gene, including clinical data, molecular data, management and research options.

Bi-allelic variants in GAD1 cause an autosomal recessive disorder characterized by the unique association of developmental and epileptic encephalopathies, cleft palate, joint contractures and/or omphalocele.

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 GAD1 gene.

Homa Tajsharghi, PhD, Professor, University of Skövde, Skovde, Sweden, homa.tajsharghi@his.se

Sarah Weckhuysen, MD, PhD, Department of Neurology, University Hospital Antwerp, Antwerp, Belgium, Sarah.weckhuysen@uantwerpen.vib.be