KCNB1 gene (KCNB1) encodes for potassium channels called Kv2.1.
They are found primarily in nerve cells (neurons) in the brain where they transport potassium ions out of neurons. The flow of ions through potassium channels in neurons plays a role in regulating the activity of neurons and sending electrical signals in the brain, allowing communication between these cells.
Children with a KCNB1-related disorder have a pathogenic variant in the normal sequence of the gene KCNB1 which impair the flow of potassium ions in the brain.
In most cases, the KCNB1 pathogenic variant leads to decreased activity of the affected ion channel. Changes in the flow of potassium ions in the brain causes epilepsy and associated developmental differences.
To date, more than 50 mutations has been reported.
KCNB1