SCN2A Related Disorders

SCN2A related disorders, also called SCN2A DEE are a group of related epilepsy and neurodevelopmental disorders characterized by seizures and intellectual disability.

Key characteristics and symptoms of SCN2A related disorders

Key characteristics

Seizures: Patients may present with seizures that are not associated with fever within the first year of life.

Intellectual Disability: Patients may present with missed developmental milestones, intellectual disability, and autism spectrum disorder.

Other Common Symptoms
  • Low muscle tone
  • Movement problems
  • Behavior problems
  • Feeding difficulties
  • Vision impairments
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How are SCN2A related disorders diagnosed?

SCN2A related disorders are suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the SCN2A gene.

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How are SCN2A related disorders treated?

Currently there is no cure for SCN2A related disorders. Patients are treated for their symptoms, not for the underlying cause of the disease. Prescription medications and a variety of therapies help to alleviate symptoms. There are currently companies investigating treatments for SCN2A related disorders.

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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