Learn About Rare Disease >    PCDH19 Epilepsy

PCDH19 Epilepsy

PCDH19 epilepsy is a genetic epilepsy characterized by cluster seizures and cognitive impairments.

Key characteristics and symptoms of PCDH19 Epilepsy

KEY CHARACTERISTICS

Cluster Seizures: Cluster seizures that last from hours to days and typically begin between the ages of three months and three years. Seizures are often difficult to control and progress negatively.

Developmental delay: Most patients with PCDH19 epilepsy experience delays and eventually intellectual disability after seizures begin.

PCDH19 epilepsy primarily affects females

OTHER COMMON SYMPTOMS

  • Behavior problems
  • Difficulty sleeping
  • Low muscle tone
  • Motor problems
  • Constipation
  • Sensory integration issues
 
 

How is PCDH19 epilepsy diagnosed?

PCDH19 epilepsy is suspected based on symptoms but is confirmed through genetic testing that identifies a mutation in the PCDH19 gene.

How is PCDH19 epilepsy treated?

Currently there is no cure for PCDH19 epilepsy. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for patients with PCDH19 epilepsy. There are currently companies investigating treatments for PCDH19 epilepsy and researchers 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 1-877-584-8995 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.