This post is part of the Epilepsy Blog Relay™, which will run from June 1 to June 30, 2018. Follow along!
I have a type of epilepsy that was inherited from my mother’s mother. My grandmother was born with PCDH19 epilepsy. She was lucky enough to grow out of Epilepsy when she turned 21 years old.
What is PCDH19 Epilepsy?
According to the PCDH19 Alliance, 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. Males with the mutation, who will be largely unaffected, will pass the mutation onto 100% of their daughters and none of their sons. Women with the mutation have a 50% chance of passing it to their daughters and will pass it to 50% of their sons. Recently, scientists have discovered some unaffected females and are studying to learn what is protecting them from the disorder. Mosaic males are also affected, but so far very few males have been diagnosed.
Common features of PCDH19
- The most consistent feature of this condition is seizures that come in clusters (seizure clusters) and last for days or weeks at a time and do not respond well to available medications.
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