Academics from Swansea University have participated in a study designed to assess the contribution of genome-wide, ultra-rare genetic variation in common epilepsy.
The ‘Ultra-rare genetic variation in common epilepsies: a case-control sequencing' study was undertaken by the Epi4K consortium of experts in order to lay the foundation for future precision medicine.
The case-control sequencing study of clinically unrelated individuals was carried out and evaluated for genetic generalised epilepsy, or sporadic non-acquired focal epilepsy.
Swansea University Medical School neurology and molecular neuroscience research professor Mark Rees said: “This represents one of the largest studies into the genetics of common epilepsy disorders, using thousands of patients with epilepsy and healthy controls in conjunction with modern statistical methods.
“The outcome definitively confirms that common forms of epilepsy have a genetic fingerprint that is not found in a normal control population.”
The study further highlighted that the variants responsible for epilepsy risk are exceptionally rare in the general population.
The emerging pattern of targeting treatments to the genetic cause in rare devastating epilepsies is also expected to extend to a proportion of common epilepsies, the research suggested.
With these findings, clinicians will be able to explain the cause of these syndromes to patients and could identify possible precision treatments in the future.
Swansea University team’s submitted more than 400 Welsh epilepsy patient samples for the study and anonymised clinical data from the Swansea Neurology Biobank to the consortium.