KCNB1
Below is a summary for the KCNB1 gene observed in research publications. This is not meant to take the place of medical advice.
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
Do people who have KCNB1-related syndrome look different?
People who have KCNB1-related syndrome do not look different.
Support Resources
- Simons Searchlight Community – KCNB1 Facebook group
- KCNB1.org website – kcnb1.org
– KCNB1.org – Facebook page
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.
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.
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.
Family Stories
We do not currently have any stories from KCNB1 families.
Click here to share your family’s story!