Researchers discover gene mutation that triggers epileptic seizures by causing neural cells to skid


According to the World Health Organization, it is estimated that around five million people worldwide have epilepsy, of which more than 80 percent belong to low- and middle-income countries.

The disease is chronic and occurs in people of all ages. People with the disease are up to three times more likely to die prematurely and can often have painful and hurtful attacks.

However, very little is known about why or how these seizures occur in the first place, so it has been more difficult to predict and treat the condition.

New research from the University of Virginia offers insight into the cause of seizures, promising better treatments for people with epilepsy.

In an article published in the Journal of Neuroscience, the researchers write that problems in the brain’s cortical microcircuits can trigger epileptic seizures. One type of brain cell, in particular, called somatostatin interneurons, can trigger seizures when it goes haywire.

Interneurons are generally thought to prevent seizures by protecting against excessive brain activity. However, the researchers found that the interneurons in somatostatin can lead to excessive activity in the brain and therefore cause seizures.

“Identifying the particular nerve cells that contribute to seizures is important because it helps guide how researchers develop new therapies,” said Manoj K. Patel, co-author of the article and researcher in the department of University of Virginia anesthesiology, in a press release. “Based on this research, we now have a new cellular target to try to restore balance to the brain and prevent seizures.”

Researchers say that a particular gene called SCN8A, which is not inherited from parents but occurs soon after conception, causes these problems in cortical microcircuits by triggering mutations.

Children with this mutation often have seizures and do not respond to medications. They can also suffer from movement disorders and significant developmental delays.

Cover image: Shutterstock

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