UCSF-led team receives $15 million to study genetics of epilepsy

A team led by UCSF scientists has received a grant of $15 million, provided over five years, to study the complex genetic factors that underlie some of the most common forms of epilepsy.

The study, known as the "Epilepsy Phenome/Genome Project (EPGP), is funded by the National Institute of Neurological Disorders and Stroke, and brings together more than 50 researchers and clinicians from 15 medical centers around the country.

The project is led by Daniel Lowenstein, MD, professor and vice chairman of the Department of Neurology at the University of California, San Francisco (UCSF), and director of the UCSF Epilepsy Center. Lowenstein and Ruben Kuzniecky, professor and director of research in the Department of Neurology at the New York University Comprehensive Epilepsy Center, are co-principle investigators of the project.

Epilepsy is among the most common neurological disorders in the world, affecting one in every 100-200 people. It is characterized by seizures caused by abnormal electrical activity between nerve cells in the brain.

Although it has been known since antiquity that the disorder is influenced by inherited genes, progress to date has been limited to the discovery of single gene mutations that cause the disease in a relatively few number of families, says Lowenstein. For the more common types of epilepsy, heredity plays a more subtle role, and it is thought that a combination of variations in multiple genes likely determine an individuals susceptibility to the disorder, as well as the responsiveness to anti-epileptic medications.

In their study, the scientists will work to identify the constellation of genes that contribute to the more common types of epilepsy. The long term goal of the project, says Lowenstein, will be to identify potential molecular targets that could be the basis of much more specific and effective treatments for patients who have epilepsy, and the prevention of epilepsy in t

Contact: Jennifer OBrien
University of California - San Francisco

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