KCNQ2

Description

The KCNQ2 gene provides instructions for making a potassium channel protein found in the brain. These channels control the flow of potassium ions in and out of nerve cells, which is crucial for regulating electrical activity and communication within the brain. KCNQ2 mutations can disrupt this process, leading to various neurological disorders.

Associated Diseases

• Benign familial neonatal seizures (BFNS)
• Epilepsy
• Intellectual disability
• Autism spectrum disorder
• Developmental delay

Did you know?

KCNQ2 gene mutations are responsible for approximately 10% of all cases of BFNS, making it one of the most common genetic causes of this condition.