Having two particular epilepsy genes protects against the disease

Nov 6 2007

New research from the Baylor College of Medicine has found that inheriting two of the genes which both cause epilepsy might actually provide protection from the serious condition.

More than 50 million people worldwide suffer from some form of epilepsy; 2 million in the U.S. and 450,000 people in the UK.

Experts estimate that 1 in every 20 people have epilepsy; there are many different types of epilepsy and the degrees of severity vary widely from patient to patient.

Though it might be assumed that having two genetic defects might actually make individuals more prone to develop epilepsy, the researchers discovered that the opposite was in fact true in the case of the genes Kcna1 and Cacna1a.

The Cacna1a gene is involved in regulation of calcium levels in the brain, while the Kcna1 gene regulates potassium levels.

Kcna1 is associated with "temporal lobe epilepsy" where a major seizure occurs while Cacna1a can cause "absence epilepsy" in which sufferers stare into space for short periods.

The researchers led by Dr Jeffrey Noebels conducted studies in mice which had been bred with both genetic defects and found that instead of worsening the epilepsy, the presence of the two defects together seemed to decrease the risk of seizures.

Dr. Noebels says the mice also did not die suddenly as is known to happen with temporal lobe epilepsy and he says in the genetics of the brain, two wrongs can make a right.

Dr. Noebels, says the discovery could point towards new ways of treating certain types of epilepsy and suggests if there is a potassium channel defect, then a drug blocking certain calcium channels might offer a benefit.

Dr. Noebels says they believe these findings have great significance and the discovery may help researchers formulate treatment regimens for different kinds of epilepsy.

Experts say the research is exciting and demonstrates the complexity of the genetics of epilepsy and any research which may eventually lead to new treatments is welcome.

The research appears online in the journal Nature Neuroscience.