This website provides information on individuals with pathogenic variants in GRIN2A, including clinical data, molecular data, management and research options.
GRIN2A-related neurodevelopmental disorder is characterized by by speech disorders, epilepsy and often developmental delay/intellectual disability (DD/ID). Epilepsy is seen in most of affected individuals with numerous possible semiologies. Additional features comprise muscular hypotonia, movement disorders, autism spectrum disorders and/or other behavior or psychiatric problems, including schizophrenia.
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 GRIN2A.
We invite clinicians who have identified a pathogenic variant in GRIN2A in an individual or parents of a child with a pathogenic variant in GRIN2A 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