Frequently Asked Questions

How is a synaptopathy disorder diagnosed in children?

A synaptopathy diagnosis is based on genetic testing that is often performed after a child has shown symptoms, such as epilepsy (seizures) and neurodevelopmental delays.

Does diagnosing a synaptic gene disorder early help improve outcomes?

Evidence indicates that addressing issues like seizures and neurodevelopmental delays early with medical treatment and therapies can improve a child’s outcome.

How do you work with families who live far away?

Families and children from outside California are welcome to attend our Synaptopathy Clinic. As the only Synaptopathy Clinic in the region, we are a particularly valuable resource for families across the West Coast and California. Typically, the first evaluation is in person; then we consult with your child’s primary neurologist on your child’s care plan. Follow-up visits are determined as needed.

Why should we come to Stanford Medicine Children’s Health for synaptopathy care?

We offer multidisciplinary expertise for children with synaptopathies, informed by state-of-the-art scientific and clinical research. This includes clinical expertise in neurology and epilepsy, as well as a highly skilled and specialized team to provide tailored care for your child’s neurodevelopmental, behavioral, and psychological needs. Because we understand your child’s condition, we are able to anticipate needs that may arise and address them early on. Our goal is to provide whole-child care that results in a better quality of life for both your child and your family. We also have a very robust research program and are unique in that we can provide access to the very latest evidence-based care through clinical trials. We are the only synaptopathy clinic on the West Coast.

What is a natural history study?

It is another way to describe an observational study. We do not provide treatment; rather, we collect your child’s health information and use the data to interpret how the disease is developing in your child and other children with the same disorder, to inform the best treatment options in the future. We are one of several sites in the nation for the STARR natural history study for children with STXBP1 gene disorders and the PRoMiSS natural history study for children with SYNGAP1 gene disorders.