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