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
KCNB1