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Scientists Find Way to Stop Epilepsy in Mice

Last Updated: August 04, 2009.

Blocking bad gene kept disease from being passed to offspring.

TUESDAY, Aug. 4 (HealthDay News) -- Blocking a gene defect prevents epilepsy from being passed from adult mice to their offspring, a finding that may help in efforts to develop new treatments for people with epilepsy, British researchers say.

The study proves that a faulty version of a gene called ATP1A3 causes epileptic seizures in mice, said lead researcher Dr. Steve Clapcote, of the Faculty of Biological Sciences at University of Leeds, and colleagues.

"ATP1A3 makes an enzyme called a sodium-potassium pump that regulates levels of sodium and potassium in the brain's nerve cells. An imbalance of sodium and potassium levels has long been suspected to lead to epileptic seizures, but our study is the first to show beyond any doubt that a defect in this gene is responsible," Clapcote said in a university news release.

He and his team studied a special strain of mice with an inherited form of severe epilepsy and found that the mice had a defective ATP1A3 gene. When these mice were bred with mice that had an extra copy of the normal ATP1A3 gene, the additional normal gene counteracted the defective gene and the offspring didn't have epilepsy.

"Our study has identified a new way in which epilepsy can be caused and prevented in mice, and therefore it may provide clues to potential causes, therapies and preventive measures in human epilepsy," Clapcote said.

The study appears in this week's online edition of the Proceedings of the National Academy of Sciences.

"Our results are very promising, but there's a long way to go before this research could yield new antiepileptic therapies. However, the human ATP1A3 gene matches the mouse version of the gene by more than 99 percent, so we've already started to screen DNA samples from epilepsy patients to investigate whether ATP1A3 gene defects are involved in the human condition," Clapcote said.

More information

The American Academy of Family Physicians has more about epilepsy.

SOURCE: University of Leeds, news release, Aug. 3, 2009

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