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Study Identifies 329 Genetic Mutations Associated with Severe Epilepsy

Gene Mutations
Gene Mutations

These are “jean mutations” not “gene mutations” but we thought it was a fun pic!

Neurologists and epilepsy researchers from NYU Langone Medical Center were among scientists who have 329 random genetic mutations associated with two of the most severe forms of epilepsy, according to a paper published today in Nature. Though well-known that many forms of epilepsy are strongly influenced by genetics, there has been relatively little progress in identifying the genetic differences that contribute to most forms of epilepsy. This study sheds light on why some with an elevated risk for epilepsy never get the disease and why certain medications work better for some patients than others.

“For generations we have been treating most forms of generalized epilepsies with no idea what causes the disease. Now, for the first time, we have identified clear genetic risk factors in patients with severe epilepsy,” says study co-author Ruben Kuzniecky, MD, professor of neurology at NYU Langone Medical Center, where he serves as co-director of the NYU Comprehensive Epilepsy Center and director of epilepsy research.

The findings are the first to emerge from the largest investigation into the genetics of epilepsy ever conducted. The study, known as the “Epilepsy Phenome/Genome Project” (EPGP) and representing a consortium of 27 medical centers from around the world, is led by Dr. Kuzniecky and Daniel Lowenstein, MD, professor and vice chair of the Department of Neurology at the University of California, San Francisco (UCSF), and director of the UCSF Epilepsy Center. Since 2007, when the project began, its team of several hundred physicians and staff has collected blood samples and clinical information from more than 4,000 patients with epilepsy and their family members. NYU Langone contributed data for 430 patients, representing the largest enroller in the study. The researchers expect the project’s unprecedented dataset to yield results for several years to come.

“This project is one of the most ambitious undertakings in our field,” Dr. Kuzniecky says. “It won’t be long before it leads to genetic tools that will help us diagnose patients more accurately and tailor treatments specific to their form of epilepsy.”

The goal of the project is to find molecular targets that will transform the way epilepsy, a neurological condition characterized by abnormal electrical activity in the brain that causes chronic seizures, is diagnosed and treated. One of the most common neurological disorders, epilepsy affects 1-2 in 100 people worldwide. For most forms of epilepsy, the cause is unknown, but scientists believe genetics play an important role. The risk of epilepsy among people who have parents or siblings with the disorder is about 4 to 8 percent, whereas the risk in the general population is 1 to 2 percent. Yet scientists have discovered only a handful of genes linked to rare forms of epilepsy in only a small number of people.


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  1. I was told mine was genetic. First time I heard that from a doctor.

    • I have never really been told much of anything except, it could be hormones, lol

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