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.
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
Do people who have KCNB1-related syndrome look different?
People who have KCNB1-related syndrome do not look different.
Research Article Summaries