Conditions and Treatments

There are numerous genes that can cause synaptopathies. While each is rare, together they are surprisingly common. We have particular expertise in treating the following, but we treat others as well:

• DNM1
• GABA-A
• OPHN1
• STXBP1
• SYNGAP1

To diagnose your child with a synaptopathy, we provide a comprehensive clinical evaluation and thorough testing. This includes brain studies (electroencephalogram [EEG]) when needed, a developmental assessment, and genetic testing.

Treatment highlights

• Our multidisciplinary care team, made up of epileptologists (neurologists specializing in epilepsy treatment), epilepsy genetics specialists including genetic counselors, neuropsychologists, psychiatrists, occupational therapists, and physical therapists, collectively treats your whole child.
• A personal care plan for the management of synaptopathies may include taking medications, managing epilepsy, building emotional and social skills, addressing psychological needs, improving behaviors, supporting learning, and enhancing sleep. Our comprehensive care improves your child’s quality of life.
• Synaptopathies are only recently understood disorders, and there are no current cures. However, our care team is actively working on research devoted to better treatments for synaptopathies.