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Large international study discovers 11 new epilepsy genes

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Publié le jeudi 20 décembre 2018

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 Bioinformatics Core at the Luxembourg Centre for Systems Biomedicine of the University of Luxembourg was responsible for data management and integration. The study has recently been published in Nature Communications. 

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. “These results would not have been possible without the joint efforts of multiple centers. The study is hence a key example of the power of collaboration and data sharing in genetics research in epilepsy,” says Dr. Roland Krause, co-author of the study and research scientist at LCSB’s Bioinformatics CoreWith these findings, the researchers hope that in the future more people with epilepsy will achieve seizure freedom.

Nature Communications December 2018 DOI: 10.1038/s41467-018-07524-z