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Diagnosing genetic epilepsies

There are many different causes of seizures, one of which is a change in your genes. There are many different genes that have been found to cause epilepsy – also known as the genetic epilepsies.

Ring Chromosome 20 Syndrome [r(20)] is classed as a genetic epilepsy, but we don’t yet which gene or gene(s) are causing the seizures and other problems. If we did, we might be closer to finding effective treatments.

This video explains some of the ways in which epilepsy is diagnosed today and why this could be contributing to  a decline in diagnoses of people with r(20).

Screenshot 2022-01-25 08.41.14

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Latest News and Research

Using genomic sequencing techniques is a new way of looking at r(20) that hasn't been done before...
A simple video explaining your genome. Thanks to Great Ormond Street Hospital charity for allowing us to share.