This website provides information on individuals with pathogenic variants in GRIN2B, including clinical data, molecular data, management and research options.
GRIN2B-related neurodevelopmental disorder is characterized by developmental delay/intellectual disability (DD/ID), muscular hypotonia, epilepsy and movement disorder. All affected individuals known so far have developmental delay preceding ID of various degree, ranging from mild to usually severe-to-profound. Epilepsy is seen in half of affected individuals with numerous possible semiologies. Additional features are muscular hypotonia, spasticity, movement disorders, cortical visual impairment and autism spectrum disorder.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of individuals with pathogenic variants in GRIN2B.
We invite clinicians who have identified a pathogenic variant in GRIN2B in an individual or parents of a child with a pathogenic variant in GRIN2B to submit their data to the registry. More information regarding the registration, general information, variant analysis and parent organisations can be found on our GRIN Portal: http://grin-portal.broadinstitute.org/.
Johannes Lemke, MD Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Johannes.Lemke@medizin.uni-leipzig.de
Ilona Krey, MD, Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany, Ilona.Krey@medizin.uni-leipzig.de