The results from a new study tripled the number of known genetic associations for epilepsy and implicated 11 new genes.
Epilepsy is a common neurological condition with a controversial past. The cause was unknown and often shrouded in mystery. We now understand that the cause is largely genetic, however, little is known about the specific genes responsible for the most common forms of the disorder. This is particularly important when we consider that a third of the 65 million patients worldwide will not become seizure free using current treatment options. To find new epilepsy genes, a large study was undertaken by more than 150 researchers from multiple centres in the UK, Europe, USA, Brazil, Hong Kong and Australia as part of the International League Against Epilepsy Consortium on Complex Epilepsies.
The DNA of more than 15,000 people with epilepsy was compared to the DNA of 30,000 healthy controls. The results tripled the number of known genetic associations for epilepsy and importantly implicated 11 new genes. These genes have a number of different functions in the human body, including regulating signal transduction between brain cells, converting vitamin-B6 into its active form, and controlling expression of genes in the brain. The researchers found that the majority of current anti-epileptic drugs directly target one or more of the associated genes and identified an additional 166 drugs that do the same. These drugs are promising new candidates for epilepsy therapy as they directly target the genetic basis of the disease. With these findings, the researchers hope that in the future more people with epilepsy will achieve seizure freedom.
KUH Epilepsy Centre and the University of Eastern Finland were critical to this effort by contributing samples of 422 patients with focal epilepsy accurately clinically diagnosed and with high-quality brain imaging data and samples of 293 controls. This line of research is continuing as part of an epilepsy biomarker study funded by the Saastamoinen Foundation and led by Professor Reetta Kälviäinen at UEF. The study seeks to identify genetic and other predictors of epilepsy in order to enable better targeted and more personalised treatments.
For further information, please contact:
Professor Reetta Kälviäinen, tel. +358 405839249, reetta.kalviainen@kuh.fi
Research article:
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies. The International League Against Epilepsy Consortium on Complex Epilepsies. Nature Communicationsvolume 9, Article number: 5269 (2018)