ScienceDaily (Aug. 4, 2009) — Scientists at Leeds have prevented epilepsy caused by a gene defect from being passed on to mice offspring – an achievement which may herald new therapies for people suffering from the condition.
The study is published August 3 in the US journal Proceedings of the National Academy of Sciences (PNAS). It offers, for the first time, irrefutable proof that a faulty version of a gene known as Atp1a3 is responsible for causing epileptic seizures in mice.
Says lead researcher Dr Steve Clapcote, of the University of Leeds' Faculty of Biological Sciences: "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."
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