STXBP1-related disorder

What is STXBP1-related disorder?

STXBP1-related disorder is a rare genetic condition that can cause developmental delays, intellectual disability, autism, epilepsy, weak muscles and movement problems. Children with STXBP1-related disorder often need support to manage symptoms and reach milestones.

What causes STXBP1-related disorder?

Mutations (changes) on the STXBP1 gene cause STXBP1-related disorder. This gene helps make a protein called syntaxin-binding protein 1 that regulates neurotransmitters — chemical messengers in the brain that are necessary for normal brain function.

What are the signs and symptoms of STXBP1-related disorder?

• Abnormal muscle tone
• Autism spectrum disorder or symptoms of autism
• Developmental delays
• Epilepsy (seizures)
• Intellectual disability
• Movement problems

What tests are used to diagnose STXBP1-related disorder?

A genetic test using blood, saliva or tissue from a cheek swab identifies changes in the STXBP1 gene.

How is STXBP1-related disorder treated?

Treatment depends on what symptoms or challenges your child is facing. There’s no cure for STXBP1-related disorder. At Children's Colorado, our treatments help reduce your child's symptoms and create the best possible quality of life.

Treatment may include recommendations for seizure management, physical, occupational or speech therapy, behavioral interventions, academic support, management of sleep and feeding concerns and recommendations for equipment and services.

Why choose us for treatment of STXBP1-related disorder?

Our care team combines the highest level of expertise with the compassion that comes from years of experience. We see people of all ages with STXBP1-related disorder in our Neurogenetic Diagnostic Clinic. 

The goal of the Neurogenetic Diagnostic Clinic is not to replace your local care team, but to provide recommendations and disorder-specific information to support your primary providers.

Our team provides proven care based on clinical research and guidelines. As nationally and internationally recognized specialists in caring for rare genetic conditions, we’re here to provide the latest treatments for our families. We serve as a consultative service too, meaning we provide resources to other providers to improve genetic outcomes.

Our subspecialty providers and therapists come together to evaluate and develop a treatment plan tailored to your child's specific needs. With so many experts in one place, we can provide all the care that children with STXBP1-related disorder need.

Helpful resources

• STXBP1 Foundation is dedicated to finding a cure for the condition and provides resources for families.