KCNB1

Below is a summary for the KCNB1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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.

LEARNING

Everyone studied so far that has KCNB1-related syndrome has had some degree of developmental delay.

BEHAVIOR

About 75 percent have autism.

About 60 percent have attention deficit hyperactivity disorder, also known as ADHD.

SITTING AND WALKING

About 50 percent have issues with movement. This includes loss of balance and muscle control as well as uncontrolled muscle contractions, also known as spasticity.

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!