CHD2

Learn more about the CHD2 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 CHD2.

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Research Article Summaries

Below, we have summarized research articles about changes in the CHD2 gene. We hope you find this information helpful.

The information available about CHD2 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.

 

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet Syndrome

Original research article by A. Suls et al. (2013).

Read the abstract here or the Simons Searchlight summary here.

 

De novo mutations in the classic epileptic encephalopathies

Original research article by Epi4K and EPGP investigators.

Read the article here and read the Simons Searchlight summary here.

 

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Original research article by S. Chénier et al. (2014).

Read the abstract here and read the Simons Searchlight summary here.

 

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Original research article by G. Carvil et al. (2013).

Read the article here and read the Simons Searchlight summary here.

 

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CHD2 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 CHD2.

Click here to learn more about this opportunity.

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Family Stories

Stories from CHD2 families:

Click here to share your family’s story!