Genetic Factors Linked with Severe Epilepsy are Identified

Researchers from  NYU Langone Medical Center have recently identified 25 new mutations on six key genes known for causing severe forms of epilepsy among children. 

The study, published Monday in the journal Nature and was funded by the United States National Institutes of Health, involved more than 40 institutions and made use of top of the line genetic techniques to ensure the reliability of results.

The study tested 264 children whose parents do not have epilepsy. According to David Goldstein, study author and director of the Human Genome Variation Center at the Duke University Medical Center, they were able to identify an unusually large number of distinct diseases that caused mutations.

The study, which was called Epilepsy 4000 (Epi4K), found new six genes that may trigger the formation of the disorder among children.

According to several reports, epilepsy is a common disease in the United States with approximately two million people suffering from it. Infants and children have greater risk of getting epilepsy than adults.

Epilepsy is a group of neurological disorders caused by the abnormal function of nerve cells specifically in the brain.

This abnormality typically results to debilitating seizures and several other serious symptoms.

The researchers of the study confirmed that it wasn't easy finding genes directly associated with the majority of epilepsies.

The results of the study suggests that a newer technique called exome sequencing may be the most effective way of finding and confirming several gene mutations that can cause neurological disorders.

Goldstein believes that now is the perfect time to study complex neurological disorders and the wealth of information available today can help researchers to explore the topic as a whole.