KCNB1

The information for this summary of KCNB1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full KCNB1 Gene Guide

The online Gene Guide includes more information about KCNB1 such as the chance of having another child with this condition, behavior and development concerns linked to KCNB1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

KCNB1-related syndrome is also called developmental and epileptic encephalopathy, 26. For this webpage, we will be using the name KCNB1-related syndrome to encompass the wide range of variants observed in the people identified.

What is KCNB1-related syndrome?

KCNB1-related syndrome happens when there are changes to the KCNB1 gene. These changes can keep the gene from working as it should.

Key Role

The KCNB1 gene plays a key role in communication between brain cells.

Symptoms

Because the KCNB1 gene is important in the development and function of brain cells, many people who have KCNB1-related syndrome have:

  • Seizures
  • Developmental delay
  • Behavior issues
  • Intellectual disability
  • Poor or absent speech

How many people have KCNB1-related syndrome?

As of 2024, 119 people with KCNB1-related syndrome have been identified in a medical clinic. The first case of KCNB1-related syndrome was described in 2014.

Learn more about the KCNB1 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. There is currently no GeneReviews for KCNB1.

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Research Article Summaries

We currently do not have any article summaries for KCNB1, but we add resources to our website as they become available. The information available about KCNB1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow. Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for KCNB1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

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Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about KCNB1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

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Family Stories

We do not currently have any stories from KCNB1 families. Click here to share your family’s story!