GRIN2B

Learn more about the GRIN2B gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

Check out the GeneReviews for GRIN2B.

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Presentations

Presentations Included:
  • “GRIN2B: What We Know” by Dr. Wendy Chung
  • “Problem Behaviors” by Barbara Haas-Givler, MEd, BCBA
  • Q & A Session

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Research Article Summaries

Below, we have summarized research articles about changes in the GRIN2B gene. We hope you find this information helpful.

The information available about GRIN2B is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

You can also visit the Simons Foundation ’s SFARI Gene website to see information for researchers about this gene.

 

Chromosome 12p deletion spanning the GRIN2B gene presenting with a neurodevelopmental phenotype: A case report and review of literature

Original research article by N. Mishra et al. (2016)

Read the abstract here and the Simons Searchlight summary here.

 

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

Original research article by E.M. Kenny et al. (2014)

Read the article here and the Simons Searchlight summary here.

 

Behavioral phenotype in five people with de novo mutations within the GRIN2B gene

Original research article by I. Freunscht et al. (2013)

Read the article here and the Simons Searchlight summary here.

 

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

Original research article by J.R. Lemke et al. (2014)

Read the abstract here and the Simons Searchlight summary here.

 

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

 

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Original research article by B.J. O’Roak et al. (2012).

Read the abstract here and the Simons Searchlight summary here.

 

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Original research article by S. Endele et al. (2010)

Read the abstract here and the Simons Searchlight summary here.

 

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about GRIN2B genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in GRIN2B.

Click here to learn more about this opportunity.

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Family Stories

Stories from GRIN2B families:

Click here to share your family’s story!