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Researchers collaborate on genetics of epilepsy study

North Shore University Hospital.
A Northwell Health researcher led a team that has identified 16 loci, an area in a chromosome associated with epilepsy, that may help epilepsy therapies based on underlying pathophysiology.

Ruben Kuzniecky, MD, served as co-author and co-lead investigator of the genetics of epilepsy study.


In the largest, international collaborative study on the subject, researchers have successfully identified 16 loci, which is an area in a chromosome associated with epilepsy. Of the 16 loci, 11 were newly discovered. The research findings will help further our understanding of the complex genetic makeup of common epilepsy disorders and could provide invaluable leads for new treatments.

The findings were published in Nature Communications in a paper entitled, “Genome-wide Mega-Analysis Identifies 16 Loci and Highlights Diverse Biological Mechanisms in the Common Epilepsies.” The study was led by the International League Against Epilepsy Consortium on Complex Epilepsies. 

Ruben Kuzniecky, MD, Northwell Health’s vice chairman of academic affairs in the department of neurology, was co-author and co-lead investigator of the study. “While epilepsy affects over 65 million people worldwide, up until this point, we have not had enough success in the identification of loci,” said Dr. Kuzniecky. “However, this is the first paper with the largest genome-wide mega-analysis involving 15, 212 individuals with epilepsy and 29, 677 healthy individuals. We have identified 16 genome-wide significant loci, of which 11 are newly discovered. In addition, we were able to pinpoint the 21 most likely epilepsy genes at these loci, with the majority in genetic generalized epilepsies. It is our hope that these findings will provide leads for epilepsy therapies based on underlying pathophysiology.”

Study examines three categories

In the study, participants were classified into three categories – those with focal epilepsy where seizures arise in a restricted part of the brain and is not regarded as genetic; genetic generalized epilepsy where seizures arise in bilateral circuits which has a very strong genetic component; and, those with undefined epilepsy. Participants were assigned to three broad ancestry groups of Caucasian, Asian and African-American. 

“Our analyses of all epilepsy cases combined revealed 16 loci that are associated with common epilepsies and our heritability analyses revealed that common genetic variants explain a third of the liability for genetic generalized epilepsy,” said Dr. Kuzniecky. “The 21 epilepsy genes implicated by our study are important in that they have diverse functions and can be targets for better target diagnosis and treatment.”

To read the published paper in Nature, click here

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