Below is a summary for the KCNB1 gene observed in research publications. This is not meant to take the place of medical advice.
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.
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.
The KCNB1 gene plays a key role in communication between brain cells.
Because the KCNB1 gene is important in the development and function of brain cells, many people who have KCNB1-related syndrome have:
- Developmental delay
- Behavior issues
- Intellectual disability
How many people have KCNB1-related syndrome?
As of 2019, about 30 people in the world with changes in the KCNB1 gene had been described in medical research. The first case of KCNB1-related syndrome was described in 2014. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries