EGI
What is EGI?
EGI is a database created by CURE to hold the genetic data of people with epilepsy. The specific type of data we are talking about is called exome sequence data. Once these data are in the secure, confidential database, they will be analyzed regularly for causes of epilepsy. These data will also be used to drive epilepsy research.

What types of results can I expect from the testing being done?

There are 6 main types of results that may come out of EGI:

  • No cause of the epilepsy is found.
  • A previously reported epilepsy-causing genetic variant in a known epilepsy-causing gene may be found.
  • A novel genetic variant in a known epilepsy-causing gene may be found.
  • A novel genetic variant in a gene related to other genes that cause epilepsy may be found.
  • A novel genetic variant in a novel gene not previously shown to cause epilepsy may be found.
  • A genetic variant to another known disease state may be found.

Genetic changes known to cause epilepsy will be reported back to your doctor. Not everyone’s epilepsy has a clear genetic cause. Because of this, a cause of your epilepsy cannot be guaranteed from EGI.

 

Inaugural Partners:
BCH Duke UCSF U of Melbourne Ambry
CURE
CURE Citizens United for Research in Epilepsy is a nonprofit organization dedicated to finding a cure for epilepsy
by raising funds for research and by increasing awareness of the prevalence and devastation of this disease.
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