Management

There is currently no cure that corrects the underlying genetic cause, but many symptoms can be treated and supported. Care usually involves a neurologist, especially if seizures are present. Anti-seizure medicines may be needed, and people with difficult-to-control seizures may benefit from evaluation in a specialized epilepsy center. Brain MRI and EEG are often used to understand the brain changes and seizure activity. Developmental therapies, such as speech therapy, physiotherapy, occupational therapy, learning support, and psychological or behavioral support, may be helpful depending on the person’s needs. Eye or vision assessment may be useful, especially when the back part of the brain is involved. Families should be offered genetic counseling to understand inheritance, recurrence risk, and reproductive options.