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PCDH19 Epilepsy 

ABOUT THE PCDH19 ALLIANCE

Our mission is to improve the lives of children and families affected by PCDH19 Epilepsy. 



WHAT IS PCDH19?

PCDH19 Epilepsy is a condition with a wide spectrum of severity in seizures, cognitive delays and other symptoms, which are all caused by a mutation of the PCDH19 gene on the x chromosome.

 

WHAT ARE THE SYMPTOMS?
The most consistent feature of this disease is seizures that come in clusters and last for days or week at a time and do not respond well to available medications. Seizures are often drug resistant and difficult to control. These seizures are accompanied by rapid oxygen desaturations and cyanosis. 

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