KCNB1

Clinical Characteristics for Families

Children with KCBN1 encephalopathy may present one or more of these symptoms:
•    Seizure which is often difficult to control by medical treatment
•    Delay in reaching developmental milestones such as sitting up, crawling and walking. The appearance of first words or phrases is frequently delayed
•    Intellectual disability
•    Behaviour problems, irritability, hyperactivity, anxiety, aggressiveness or autistic traits / Attention Deficit Hyperactivity Disorders

Other common problems could include:
•    Decreased or increased muscle tone
•    Unvoluntary abnormal movments
•    Visual problems;
•    Gastro-intestinal issues (feeding difficulties)
•    Sleep disturbances