GRIN2B RESEARCH

PAPERS

CAUTION – Many of these papers contain hard-to-understand, scientific terms and can be overwhelming to read immediately after an initial diagnosis.

• “GRIN2B-Related Neurodevelopmental Disorder“, May 2018, by Konrad Platzer, MD and Johannes Lemke, MD
• “GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects“, April 2017, by Konrad Platzer, et al.
• “Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable phenotype disorders”, November 2010, by Sabine Endele, et al.
  This article is not available online.  You can follow the link and purchase the article for $32.99.  Or, you should be able to contact your child’s Doctor or to ask if they have access to this article.
• “Behavioral phenotype in 5 individuals with de novo mutations within the GRIN2B gene” May 2013, by Inga Freunscht, et al
• “Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains” December 2016, by Sharon A. Swanger, et al
• “Human GRIN2B variants in neurodevelopmental disorders” October 2016, by Chun Hu, et al 
• “Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype:  A Case Report and Review of Literature” April 2016, by Navin Mishra, MD, et al
• “Gene Mutation Linked to Persistent ADHD” March 2016, by Liam Davenport
• “GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy” January 2014, by Johannes Lemke, et al

For a Summary of additional papers, please check out Simons Searchlight’s GRIN2B page. If you click on the links for these articles, you will see that you are only able to view an abstract. If you wish to read the full article, you will need to contact a doctor for access.

If you know of additional relevant papers not listed above, please email us details at info@grin2b.com.

GUIDES

The non-profit, Unique, Understanding Chromosome Disorders, has created a guide to understanding GRIN2B based on input from doctors and several parents.  Follow the link, and scroll down to Chromosome 12 to find the printable guide for GRIN2B.

WEBSITES

National Institute of Health’s Genetic and Rare Diseases Information Center

Simons Foundation Autism Research Initiative

Dutch website about GRIN2B – you can use Google Translate to read it.

CURRENT RESEARCH INITIATIVES

BioGENE Study – University of Alabama

We are proud to announce the launch of the BioGENE Study, a research study led by Dr. Caitlin Hudac to better understand the brains of children with GRIN2B mutations! This research study will use Electroencephalography or “EEG”, which is a wet cap that can record brain signals. You and your child can participate in this study either at Dr. Hudac’s lab at the University of Alabama or her team can travel to your home or region. She will also be in Chicago before and after the GRIN2B Family Weekend July 2020, if you would like to schedule a research visit for that event. If you are interested in enrolling in this study or would like more information, you can contact Dr. Hudac directly (cmhudac@ua.edu, phone: 205-348-2123) or fill out the sign-up form on her website: https://b-rad.ua.edu/biogene-project.html.

*This study will enroll 25 patients with a GRIN2B diagnosis.

Simons Searchlight (formerly Simons VIP Connect)

Simons Searchlight is an online community that supports families with rare genetic changes (also called “genomic variants”) associated with features of autism and developmental delay. They provide access to resources, information, and family support. Simons Searchlight also provides an opportunity for families to participate in research. GRIN2B is one of the many genetic changes they are studying.

Please click here for more details and visit Simons Searchlight to register.

The Tiger Study at University of Washington’s Autism Center
The University of Washington’s Autism Center in Seattle, Washington (USA) is performing a study to better understand the medical, learning and behavioral features of individuals with changes in GRIN2B, called the TIGER Study. Learn more here.