11 newfound epilepsy genes may lead to better treatments

New research triples the number of known genetic associations for epilepsy and could help pin down therapies for tough-to-treat cases.

New research pinpoints 11 genes associated with epilepsy and may lead to drugs for the millions of patients who do not respond to existing treatments.

Researchers compared the DNA of more than 15,000 people with epilepsy to the DNA of 30,000 control people without the disorder.

The results tripled the number of known genetic associations for epilepsy and—importantly—implicated 11 new genes which have a number of different functions in the human body, including:

  • Regulating interactions between brain cells
  • Converting vitamin-B6 into its active form, potentially making some forms of epilepsy easily treatable
  • How proteins are made from the blueprint of genes

The researchers found most available anti-epileptic drugs directly target one or more of these genes, but they also identified an additional 166 drugs that do the same.

Sam Berkovic, a clinical neurologist from University of Melbourne who is based at Austin Health, says the discovery was significant because current treatments fail a third of the 65 million epilepsy patients worldwide.

“These drugs we’ve identified already exist but may show promise for treating epilepsy as they directly target the genetic basis of the disease,” Berkovic says. “With our findings, we hope that in the future more people with epilepsy will achieve seizure freedom.”

Berkovic says epilepsy’s cause had long been shrouded in mystery. “We now understand that the cause is largely genetic, but little was known about the specific genes responsible for the most common forms of the disorder,” he says.

The next step would be replicating these results in an even larger sample, which is currently underway, and then drilling down on specific groups of patients and the genes that influence their type of epilepsy to trial new therapies, Berkovic says.

The research appears in Nature Communications.

More than 150 researchers from multiple centers in the UK, Europe, USA, Brazil, Hong Kong, and Australia who are part of the International League Against Epilepsy Consortium on Complex Epilepsies took part in the study.

Source: University of Melbourne

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