New Genetic Cause of Epilepsy Found

 

    Researchers have discovered two new gene mutations that cause epilepsy, more specifically the Familial adult myoclonic epilepsy (FAME). The two gene mutations are STARD7 and MARCH6 and they form the FAME2 and FAME3. These mutations form from repeat mutation which are mutations that are involved with neurological diseases. This explains why it is found in epilepsy. This new discovery proves to be extremely beneficial to families who have been affected with this disease because it allows a new treatment plan that could work out better for the patient themselves. With this knowledge testing is available to see the change thats able to be done for the patient which would include a more controlled form of the disease itself. Due to this form of mutation it can be very hard to find the mutation in the DNA sequence so special tools are used such as the expanded short tandem repeat algorithm. This tool can scan an entire genome to find the mutation and other tools aren't able to pick up repeat expansions. This discovery has relieved many families and patients that have had to deal with a disease that no one knew it was caused by. With this information we can begin to work on the important parts of the disease and maybe even find a cure.

https://medicalxpress.com/news/2019-12-genetic-epilepsy.html

https://www.aesnet.org/sites/default/files/file_attach/12.7%20-%20New%20Insight%20Into%20the%20Genetic%20Causes%20of%20Epilepsy_0.pdf