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.

Newsletters and Scientific Publicaitons

EPGP Newsletters

May 2013: The cohort was completed. In the Infantile Spasms cohort, two entirely new genes were discovered, and in the polymicrogyria cohort, one entirely new gene was discovered.

June 2015: Since our last newsletter, the EPGP investigators have continued studying the genes in EPGP.




Scientific Publications

The EPGP Collaborative. The Epilepsy Phenome/Genome Project. Clin Trials. 2013 Aug;10(4):568-86. doi: 10.1177/1740774513484392. Epub 2013 Jul 1. PMID: 23818435

Epi4K Consortium. Epi4K: gene discovery in 4,000 genomes. Epilepsia. 2012 May; 53(8):1457-1467. doi:10.1111/j.1528-1167.202.03511.x



McGovern K, Freyer Karn C, Fox K, the EPGP Investigators. Surpassing the Target: How a Recruitment Campaig Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project. Clin Transl Sci. 2015 Jul 14. doi: 10.1111/cts.12307. Epub ahead of print.

Epi4K Consortium; Epilepsy Phenome/Genome Project. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurology. 2015 Aug; 78(2):323-8. doi: 10.1002/ana.24457. Epub 2015 Jul 1.

Pardoe H, Mandelstam S, Kucharsky Hiess R, Kuzniecky R, Jackson G, Alzheimer's Disease Neuroimaging Initiative, Epilepsy Phenome/Genome Project. Quantitative assessment of corpus callosum morphology in periventricular nodular heterotopia. Epilepsy Research. 2015 Jan. 109:40-47. doi: 10.1016/j.eplepsyres.2014.10.010. Epub 2017 Oct 30.

Carlson C, Dugan P, Kirsch H, Friedman D, Epilepsy Phenome/Genome Project. Sex differences in seizure types and symptoms. Epilepsy and Behavior. 2014 Dec; 41:103-108. doi:10.1016/j.yebeh.2014.09.051

Dugan P, Carlson C, Bluvstein J, Chong D, Friedman D, Kirsch H, Epilepsy Phenome/Genome Project. Auras in generalized epilepsy. Neurology. 2014 Oct 14;83(16):144409. doi: 10.1212/WNL.0000000000000877. Epub 2014 Sep 17

EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. American Journal of Human Genetics. 2014 Oct 2. 95(4)360-370. doi:10.1016/j.ajhj.2014.08.013

Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutation in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. PMID: 23934111

Friedman D, Fahlstrom R; EPGP Investigators. Racial and ethnic differences in epilepsy classification among probands in the Epilepsy Phenome/Genome Project (EPGP). Epilepsy Res. 2013 Dec;107(3):306-10. doi: 10.1016/j.eplepsyres.2013.09.007. Epub 2013 Oct 1. PMID: 24139856

Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E; EPGP Investigators. Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Nov;54(11):1898-904. doi: 10.1111/epi.12395. Epub 2013 Oct 7. PMID: 24116958

Shain C, Ramgopal S, Fallil Z, Parulkar I, Alongi R, Knowlton R, Poduri A; EPGP Investigators. Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project. Epilepsia. 2013 Aug;54(8):1368-75. doi: 10.1111/epi.12238. Epub 2013 Jun 10. PMID: 23750890

Winawer MR, Connors R; EPGP Investigators. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia. 2013 Feb;54(2):288-95. doi: 10.1111/epi.12072. Epub 2013 Jan 7. PMID: 23294289

Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M; EPGP Investigators. The Epilepsy Phenome/Genome Project (EPGP) informatics platform. Int J Med Inform. 2013 Apr;82(4):248-59. doi: 10.1016/j.ijmedinf.2012.03.004. Epub 2012 May 10. PMID: 22579394