SYNGAP1 is a rare neurodevelopmental disorder characterized by intellectual disabilities and seizures. Patients can present with a spectrum of severity.

Key characteristics and symptoms of SYNGAP1

Key Characteristics

Intellectual disability: All patients with SYNGAP1 have some form of intellectual disability that ranges from moderate to severe. Some patients are diagnosed with autism.

Epilepsy: About 2/3 of patients with SYNGAP1 experience seizures. In some cases, seizures are easy to control while others may require multiple medications to gain seizure control.

Other Common Symptoms
  • Low muscle tone
  • Small head size
  • Behavioral problems
  • Language impairment
  • Eating difficulties
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How is SYNGAP1 diagnosed?

A diagnosis of SYNGAP1 is suspected based on symptoms but is confirmed through genetic testing that identifies a mutation in the SYNGAP1 gene.

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How is SYNGAP1 treated?

Currently there is no cure for SYNGAP1. Patients are treated for their symptoms, not for the underlying cause of the disease. Medications and therapies can be used to alleviate symptoms. Researchers are analyzing patient data to better understand the condition so a cure may be found.

AmbitCare can help you understand how rare disease might be part of your story.

The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.

Join our community

Have additional questions? Contact an AmbitCare Ambassador by phone at 508-203-6891 or by email at info@ambitinc.com today.

Our hours of operation are Monday-Friday, 9-5pm ET. An AmbitCare Ambassador will typically respond within 1-2 business days.

* Please note that while AmbitCare Ambassadors can help you better understand what resources are available for families with loved ones suffering from seizures and developmental delays, they are not licensed medical providers and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments.

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