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.

Participant Advocacy and Research Projects

Patient Advocacy Groups

We have included a short resource list of information about epilepsy, as well as research and patient groups related to EPGP:

·         The Epilepsy Foundation’s Epilepsy.com

·         Citizens United for Research in Epilepsy (CURE)

·         Finding a Cure for Epilepsy and Seizures (FACES)

·         Rare Epilepsy Network (for families with LGS and many other rare epilepsies)

·         Infantile Spasms Site by Child Neurology Foundation

·         Lennox Gastaut Foundation

·         Lennox-Gastaut Foundation Facebook Group

·         Wishing for Elliott—an organization researching SCN8A

·         The Charlie Foundation for Ketogenic Therapies

·         Patient-Centered Outcomes Research Institute

·         NIH Web Page about Clinical Research Trials

 

 

Research Projects and Registries

Many new epilepsy studies and registries are active; some of the research projects highlighted below are projects by scientific groups who were part of EPGP; others are projects that are related to familial epilepsies like those studied by the EPGP Project.

 

egi The Epilepsy Genetics Initiative (EGI) is a new initiative created by the Citizens United for Research in Epilepsy (CURE), National Institute of Neurological Disorders and Stroke (NINDS), and Vogelstein Foundation to bridge the gap between people with epilepsy, clinicians, and researchers and advance precision medicine in epilepsy. EGI has created a centralized database to hold the genetic data of people with epilepsy. The data (called exome data) will be analyzed and reanalyzed in an attempt to identify the cause of the person’s epilepsy. Findings will be reported back to the person's doctor. The data will also be made available to advance research. If you are having genetic testing done, you can have your exome data contributed and studied at EGI. More information can be found here. Contact the research team at Columbia for more information: (844) EGI-CURE or egi@CUREepilepsy.org
HEP The Human Epilepsy Project (HEP) is a study about biomarkers in epilepsy (proteins in our blood or genes, or changes doctors can see on an MRI) and how people who were newly diagnosed with epilepsy are responding to their epilepsy medications.  The research team, which includes many of the folks from EPGP, is enrolling 500 participants over 7 years. This new study has already yielded some interesting discoveries, particularly in brain MRIs and drug response. For more information: info@humanepilepsyproject.org 
Ryan Brown To expedite research into the rare epilepsies, ten rare epilepsy foundations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to create the first ever Rare Epilepsy Network (REN).  The REN is building a patient registry to collect information about rare epilepsy patients to better understand these conditions, improve treatments, and improve the lives and quality of care of patients living with them. http://www.epilepsy.com/ren
http://www.childrenshospital.org/%7E/media/centers-and-services/programs/a_e/epilepsy-genetics-program/poduri.ashx?h=301&w=452&la=en Ann Poduri, MD at the Epilepsy Genetics Program at Boston Children’s Hospital was one of  the doctors who  enrolled EPGP participants. Dr. Poduri continues to study epilepsy genetic disorders, particularly in infantile spasms, Ohtahara Syndrome, Dravet Syndrome, and malformations of cortical development. Contact the program for more information:  (617) 355-8656
http://brain.ucsf.edu/sites/brain.ucsf.edu/files/wysiwyg/Banner%20Small%20copy.jpg Elliott Sherr, MD at the Brain Development Research Program at the University of California, San Francisco helped develop the methods for studying the infantile spasms, Lennox-Gastaut Syndrome, and malformations participants in EPGP. His ongoing research is looking at the epileptic encephalopathies (infantile spasms and Lennox-Gastaut Sydrome), autism spectrum disorders, agenesis of the Corpus Callosum, and Aicardi Syndrome.  Contact the Research Coordinator directly for more information: (415) 502-8039
http://sudep-registry.org/wp-content/themes/Sudep/images/sudep_logo.png Orrin Devinsky, MD at the New York University School of Medicine, has a North American SUDEP Registry (NASR).  If any patient were to die from sudden unexplained death in epilepsy, the registry would like to talk to the family and include the patient’s genetic sequence in the  NASR Registry. Please contact the research group at (855) 432-8555 or email Dr. Devinsky directly.   

 

New research studies continue to be developed. Please stay in contact with your clinical center, and look for opportunities to stay involved—through the central EPGP database or new research projects.

Together we can help improve the lives of people living with epilepsy!