A recent study discovered a link between two genes and childhood epilepsy. These epilepsy genes could help researchers understand the disease better.
Epilepsy, which is a disorder that affects the central nervous system, causes regular or irregular seizures that involve loss of consciousness and abnormal behavior. Symptoms can vary widely.
The onset of epilepsy occurs most commonly in early childhood, although the condition can affect anyone, and its presence in a family’s medical history places those individuals at a higher than normal risk of developing epilepsy as well.
A worldwide, $25 million study called Epilepsy 4000, or Epi4K, has been conducting research dedicated to analyzing the DNA of 4,000 epilepsy patients and their family members. The goal of the study, which was funded in large party by the National Institutes of Health, was to uncover epilepsy-causing genetic mutations.
Findings related to the researchers’ work were recently published, and the results are filled with promise for the medical world. As many as 25 such mutations in new and previously identified genes were found. Additionally, two new genes have been linked to severe forms of childhood epilepsy.
Although sometimes called “epilepsy genes” by those reporting the findings of the study, it’s important to understand there is no gene that directly causes the development of epilepsy, but rather, certain mutations of certain genes that are to blame.
The discoveries made by the Epi4K medical researchers could mean the development of new treatments and therapies for those affected by epilepsy, as well as provide insight into what causes epilepsy to develop in the first place.
The study employed “exome sequencing,” a cutting-edge technique in the field of genetics that was designed to allow scientists to identify new disease-causing genetic mutations that have not been inherited, as it’s not possible for all epilepsy-causing mutations to be inherited.
For the project, DNA and other clinical data was collected from the participants, and then the exomes (representing all of a person’s genes) of children diagnosed with epilepsy were compared to the exomes of their parents, who did not have epilepsy. By studying the differences between in the exome sets, researchers were able to identify mutations that were potentially disease-causing.
These potentially disease-causing mutations were found in six genes. Of these, four have been studied previously using other methods, while the other two had never before been identified.
The latter two mutations may be linked to two severe types of childhood epilepsy: infantile spasms, and Lennox-Gastaut syndrome.
According to the National Institutes of Health, more than 2 million people in the United States alone suffer from one form or another of epilepsy.
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