August 5, 2019

Scientists Discover Rare Genetic Variants Associated with Epilepsy in Large-Scale Study

For the first time, scientists have mapped out the genes associated with epilepsy. The study is one of the largest of its kind to look into the genetic make-up of people with epilepsy. The research, which was conducted by scientists from Austin Health and the University of Melbourne was published in the latest issue of the journal American Journal of Human Genetics.

The team of researchers included patients from different nations and included around 18000 persons. Rare genetic variants within these patients pointed at their association with epilepsy. The team writes that there have been genetic sequencing studies before that have noted genetic association with severe epilepsies.

Even certain gene deletions have been found to be associated with less severe forms of epilepsy. This study looked at the “ultra-rare genetic risk factors for different types of epilepsies,” they wrote.

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