The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project focused on advancing our understanding of the genetic basis of epilepsy (https://www.epgp.org/) .
Patients diagnosed with epilepsy that have volunteered to participate in the EPGP project have donated thousands of biomaterials that are available through the NINDS Human Genetics Resource Center catalog to the scientific community.
EPGP Study Samples
Additional information is included in the following publications:
Epi4K Consortium and Epilepsy Phenome/Genome Project, Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurol. 2017 16(2):135-143. PMID:28102150.
Epi4K Consortium, De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Am J Hum Genet. 2016 99(2):287-98. PMID: 27476654.
Epilepsy Phenome/Genome Project Epi4K Consortium, Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol. 2015 78(2):323-8. PMID: 26068938.
McGovern K, Karn CF, Fox K; EPGP Investigators. Surpassing the Target: How a Recruitment Campaign Transformed the Participant Accrual Trajectory in the Epilepsy Phenome/Genome Project. Clin Transl Sci. 2015 Oct;8(5):518-25. PMID: 26176343.
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium, De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet. 2014 95(4):360-70. PMID: 25262651.
Vanoye CG, Gurnett CA, Holland KD, George AL, Jr., Kearney JA, Novel SCN3A variants associated with focal epilepsy in children. Neurobiology of Disease. 2014 62:313-22. PMID: 24157691.
Epi4K Consortium and Epilepsy Phenome/Genome Project, et al. De novo mutations in epileptic encephalopathies.
Nature. 2013 501(7466):217-21. PMID: 23934111.
Kasperaviciute D, Catarino CB, Matarin M, Leu C, Novy J, Tostevin A, Leal B, Hessel EV, Hallmann K, Hildebrand MS, Dahl HH, Ryten M, Trabzuni D, Ramasamy A, Alhusaini S, Doherty CP, Dorn T, Hansen J, Krämer G, Steinhoff BJ, Zumsteg D, Duncan S, Kälviäinen RK, Eriksson KJ, Kantanen AM, Pandolfo M, Gruber-Sedlmayr U, Schlachter K, Reinthaler EM, Stogmann E, Zimprich F, Théâtre E, Smith C, O'Brien TJ, Meng Tan K, Petrovski S, Robbiano A, Paravidino R, Zara F, Striano P, Sperling MR, Buono RJ, Hakonarson H, Chaves J, Costa PP, Silva BM, da Silva AM, de Graan PN, Koeleman BP, Becker A, Schoch S, von Lehe M, Reif PS, Rosenow F, Becker F, Weber Y, Lerche H, Rössler K, Buchfelder M, Hamer HM, Kobow K, Coras R, Blumcke I, Scheffer IE, Berkovic SF, Weale ME; UK Brain Expression Consortium, Delanty N, Depondt C, Cavalleri GL, Kunz WS, Sisodiya SM., Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain. 2013 136 (Pt 10):3140-50. PMID: 24014518.
Nesbitt G, McKenna K, Mays V, Carpenter A, Miller K, Williams M, The EPGP Investigators, The Epilepsy Phenome/Genome Project (EPGP) informatics platform. International journal of medical informatics. 2013 Apr;82(4):248-59. PMID: 22579394.
Turner MR, Bowser R, Bruijn L, Dupuis L, Ludolph A, McGrath M, Manfredi G, Maragakis N, Miller RG, Pullman SL, Rutkove SB, Shaw PJ, Shefner J, Fischbeck KH. Mechanisms, models and biomarkers in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14 Suppl 1:19-32. PMID: 23678877.
Winawer MR, Connors R; EPGP Investigators. Evidence for a shared genetic susceptibility to migraine and epilepsy. Epilepsia. 2013 54(2):288-95. PMID: 23294289.
Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL, Kearney JA, Voltage-gated potassium channel KCNV2 (Kv82) contributes to epilepsy susceptibility. Proceedings of the National Academy of Sciences of the United States of America. 2011 Mar 29;108(13):5443-8. PMID: 21402906.
Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R, Noebels J, Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell. 2011 145:1036-48. PMID: 21703448.
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE, Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies. PLoS Genetics 2010 6(5):e1000962.
PMID: 20502679.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T, 15q133 microdeletions increase risk of idiopathic generalized epilepsy. Nature genetics 2008 41:160-2. PMID: 19136953.
Holland KD, Kearney JA, Glauser TA, Buck G, Keddache M, Blankston JR, Glaaser IW, Kass RS, Meisler MH, Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy. Neuroscience letters. 2007 433:65-70. PMID: 18242854.
Dlugos DJ, Scattergood TM, Ferraro TN, Berrettinni WH, Buono RJ, Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy. Epilepsy & behavior. 2005 6:444-6. PMID: 15820358.
