SLC6A1-Related Disorder

What is SLC6A1-related disorder?

SLC6A1-related disorder is a rare genetic condition caused by changes in the SLC6A1 gene. This condition can cause epilepsy, developmental delays and autism spectrum disorder (ASD).

SLC6A1-related disorder occurs equally in boys and girls and has been found in fewer than 500 patients in the world. A child is born with a genetic changes in their SLC6A1 gene with symptoms showing up in infancy or early childhood. SLC6A1 mutations are not caused by illness or exposures to substances during or after pregnancy and are not usually inherited from a parent.

What causes SLC6A1-related disorder?

A change in the SLC6A1 gene causes this condition. This is typically a spontaneous change in the patient, not inherited (passed down) from a parent.

What are the signs and symptoms of SLC6A1-related disorder?

Signs and symptoms of SLC6A1-related disorder include:

• Abnormal tone
• Behavioral problems
• Developmental delays
• Epilepsy (seizures)
• Intellectual disability
• Movement problems

What tests are used to diagnose SLC6A1-related disorder?

A genetic test using blood, saliva or tissue from a cheek swab that identifies the change in the SLC6A1 gene diagnoses SLC6A1-related disorder.

How is SLC6A1-related disorder treated?

At this time, there’s no cure for SLC6A1-related disorder. Treatment usually involves helping the child manage their symptoms. This may involve taking anti-seizure medication and engaging in various types of therapy, including speech, physical and occupational therapy. Special diets and behavioral interventions can also be part of helping patients manage this disorder.

Why choose us for treatment of SLC6A1-related disorder?

At Children’s Hospital Colorado, we know receiving a genetic diagnosis can be a challenging time for families. That’s why our team provides a comprehensive care plan for every child with SLC6A1-related disorder. Our treatments are designed to help alleviate your child's symptoms and ensure the best possible quality of life.

In our Neurogenetic Multidisciplinary Clinic, we provide many doctors and specialists in one place to ensure your child receives the most individualized care at every visit. You may see neurologists, genetic counselors, physical, occupational or speech therapists and many other experts to help manage SLC6A1-related disorder. We see people of any age with this condition.

The goal of our clinic is not to replace your local care team, but to provide recommendations and disorder-specific information to support your family. This may include:

• Help with seizure management
• Physical, occupational or speech therapy
• Behavioral interventions
• Help with an autism spectrum disorder (ASD) diagnosis
• Academic support
• Management of sleep concerns
• Management of feeding concerns
• Recommendations for equipment such as wheelchairs
• Medical genetic consultation

Helpful resources

• SLC6A1 Connect provides resources for families and advocates for research to help find a cure for SLC6A1-related disorder