Newsletters

Skuola Screenshot PieceMay 2013: We are thrilled to report that over the 7 years that EPGP was enrolling and phenotyping, our final dataset contains 4,199 people with epilepsy and their family members and more than 38,000 study activities (interviews, EEGs, blood samples, etc)—more than 6.9 million data points. Together we have worked to create, in EPGP, a scientific resource that is changing the way we think about genetics of epilepsy. In the Infantile Spasms cohort, two entirely new genes were discovered, and in the polymicrogyria cohort, one entirely new gene was discovered.

The Music Magazine Screenshot PieceJune 2015: Since our last newsletter, the EPGP investigators have continued studying the genes in EPGP. In Epi4K Project 1, the EPGP cohort contributed to new gene discoveries: two new genes showed association with epileptic encephalopathies (GABR3 and ALG13), and many other genes (CACNA1A, CHD2, FLNA, GABRA1, GRIN1, GRIN2B, HNRNPU, IQSEC2, MTOR and NEDD4L) also had de novo mutations The group has also shown that de novo mutations observed are enriched in specific gene sets, including genes regulated by the fragile X  protein. The investigators are continuing to look for new gene discoveries in the families with infantile spasms, Lennox-Gastaut Syndrome, and polymicrogyria and periventricular heterotopia, as well as the families with generalized and focal epilepsies.

Frequently Asked Questions

What is EPGP?
EPGP was a research study that enrolled patients with epilepsy and healthy controls to try to uncover the role our genes play in the development of certain types of epilepsy.

Where did EPGP take place?
EPGP was an international consortium of 27 clinical centers in the U.S., Canada, Argentina, and Australia funded by the National Institute of Neurological Disorders and Stroke.

How many people participated?
As of December 2012, enrollment in the study is complete, with more than 4,000 participants enrolled, and we are looking for new genes of epilepsy.

Am I/Is my child eligible to participate?
EPGP is closed to enrollment, but please visit our participant resources page to see if there are trials that you can enroll in!

What was required?
Patients or their caregivers and controls were asked to donate some blood so their DNA can be extracted and studied. All participants completed questionnaires and interviews. Patients with epilepsy had an EEG, an MRI, or both, if they were not already done, and medical records were studied.

Who were the key personnel involved in the study?
The principal investigators were Daniel Lowenstein, MD of the University of California, San Francisco and Ruben Kuzniecky, MD of New York University School of Medicine.

Who sponsored the study?
EPGP study was sponsored by the National Institute for Neurological Diseases and Stroke (NINDS).

Where can I get more information?
For more information on the study, contact catharine.freyer@ucsf.edu.