PhenomeGene — Human Disease Gene Website SeriesGAD2

GAD2

This website provides information on patients with mutations in the GAD2gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GAD2gene is a multisystem disorder characterized by  early-onset epilepsy, developmental delay, mild to moderate intellectual disability and autism spectrum disorder. Not all individuals with a mutation in the GAD2gene 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 GAD2gene.

Matthias de Wachter, MD, Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, Belgium, Matthias.dewachter@uza.be
Mathijs B. van der Lei, PhD, Center of Medical Genetics, University of Antwerp, Belgium, mathijs.vanderlei@uantwerpen.be
R. Frank Kooy, PhD, Center of Medical Genetics, University of Antwerp, Belgium, frank.kooy@uantwerpen.be