Synaptopathy Clinic

Multidisciplinary care for genetic brain disorders affecting the synapses

Synaptopathies are genetic brain disorders that cause syndromes that can lead to a wide variety of development issues throughout the body. At Texas Children’s Hospital, the Synaptopathy Clinic provides specialized care for infants, children and teens. We work closely with you and your child to tailor a treatment plan to meet their specific needs.

What are synaptopathies?

Synaptopathies are brain disorders that affect synapses, small gaps at the ends of neurons where signals pass from one neuron to the next. Neurons are cells that transmit signals between the brain and other parts of the central nervous system, including the spinal cord and nerves.

Certain genes and their corresponding proteins play important roles in how the brain develops and works, and mutations (changes) in these genes cause synaptopathies. Synaptopathies can cause a variety of symptoms, including developmental delays, epilepsy, thinking and learning disabilities, and difficulties with social skills, behavior and communication.

We provide comprehensive care for synaptopathies such as:

· Phelan-McDermid syndrome: Also called 22q13.3 deletion syndrome, this disorder causes neurodevelopmental symptoms along with specific facial features and digestive symptoms.

· SYNGAP1-related intellectual disability: This disorder results from mutations in the SYNGAP1 gene, causing moderate to severe difficulties with learning, speech and movement

· STXBP1 encephalopathy: Caused by mutations in the STXBP1 gene, this disorder causes severe learning disabilities, developmental delays and repeated seizures.

Experienced team for advanced synaptopathy care

Our doctors and providers have advanced training and extensive experience in caring for hundreds of children who have synaptopathies and a wide range of symptoms. You and your child will see a multidisciplinary team. Through the Synaptopathy Clinic, your child has access to ongoing clinical research trials for promising new treatments that aren’t widely available.