This website provides information on patients with mutations in the GABBR2 (Gamma-Aminobutyric Acid Type B Receptor Subunit 2) gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the GABBR2 gene characterized by epilepsy including epileptic encephalopathy, severe intellectual disability, and Rett-like phenotypes (RTT) with neurodevelopmental regression.
Not all individuals with a mutation in the GABBR2 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 GABBR2 gene.
Debopam Samanta, MD, University of Arkansas for Medical Sciences, Little Rock, USA, email@example.com
Yuri A Zarate, MD, University of Arkansas for Medical Sciences, Little Rock, USA, YAZarate@uams.edu