KCNQ2 Encephalopathy

KCNQ2 encephalopathy is a rare genetic seizure disorder characterized by tonic seizures that present in the first week of life.

Key characteristics and symptoms of KCNQ2 encephalopathy

Key Characteristics

Seizures: Tonic seizures occur many times a day and are difficult to treat. Seizures in most patients resolve within months or years.

Developmental Delays: Many patients with KCNQ2 experience developmental impairments that can range from mild to severe.

Other Common Symptoms
  • Autism
  • Repetitive movements
  • Poor eye contact
  • Self-harm
  • Sensitivity to sound
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How is KCNQ2 encephalopathy diagnosed?

KCNQ2 encephalopathy is suspected based on symptoms but confirmed through genetic testing that identifies a mutation in the KCNQ2 gene.

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How is KCNQ2 encephalopathy treated?

Currently, there is no cure for KCNQ2 encephalopathy. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for patients with KCNQ2 encephalopathy. There are currently companies investigating treatments for KCNQ2 encephalopathy.

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.

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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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