Study Shows that Two Mutated Epilepsy Genes Cancel Each Other Out

A study conducted at the Baylor College of Medicine has provided new insights into genes that cause epilepsy and may also lead to new gene therapy for treating epilepsy.

The study has shown that inheriting two genes that cause epilepsy may actually cancel each other out and lead to fewer seizures. The new research gathered from the study will significantly change the way scientists analyze genes to predict neurological diseases.

The study was lead by Dr. Jeffrey L. Noebels of Baylor College of Medicine, a professor of neurology, neuroscience, and molecular and human genetics. He and his colleague, Dr. Ed Glasscock, a post-doctoral researcher at Baylor College of Medicine, conducted the study by breeding mice with two mutated genes that are known to cause epilepsy. Normally, the genes serve to keep the ion channels in the nervous system's cells open, or to close them when toxins are present. Ion channels in cells allow potassium and calcium to flow in and out of the cell and the two genes control the flow of either potassium or calcium respectively.

The first mutated gene is called Kcna1 and it controls the flow of potassium. When this gene is mutated, it is known to cause severe seizures that affect the brain's ability to see, hear, and speak clearly, and also the brains ability to process memories. All of these abilities are located in the brain's temporal lobe. The mutated gene has also been known to cause sudden death in baby mice.

The second mutated gene is called Cacna1a and it regulates the flow of calcium. It is known to cause what is called absence epilepsy. The seizures that people suffer when they have absence epilepsy do not have the characteristics of jerking, trembling, or other movements that are characteristic of other types of seizures. Instead, when people with absence epilepsy have a seizure, they might look like they are staring off into space.