Epi25 Primary Publications

Epi25 Collaborative. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience Volume 27, October 2024, Pages 1864–1879, https://doi.org/10.1038/s41593-024-01747-8; Open Access paper

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Epi25 Collaborative. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, American Journal of Human Genetics, Volume 108, Issue 6, June 2021, Pages 965-982, https://doi.org/10.1016/j.ajhg.2021.04.009

Epi25 Collaborative. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. American Journal of Human Genetics, Volume 19, Issue 105, August 2019, Pages 267-282, https://doi.org/10.1016/j.ajhg.2019.05.020

Epi25 Partial Collaborative Publications

Costin Leu, Remi Stevelink, Alexander W Smith, Slavina B Goleva, Masahiro Kanai, Lisa Ferguson, Ciaran Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M Sisodiya, Gianpiero L Cavalleri, Bobby P C Koeleman, Holger Lerche, Lara Jehi, Lea K Davis, Imad M Najm, Aarno Palotie, Mark J Daly, Robyn M Busch, Epi25 Consortium, Dennis Lal, Polygenic burden in focal and generalized epilepsies, Brain, Volume 142, Issue 11, November 2019, Pages 3473–3481, https://doi.org/10.1093/brain/awz292

Lisa-Marie Niestroj, Eduardo Perez-Palma, Daniel P Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J Daly, Aarno Palotie, Dennis Lal, Epi25 Collaborative, Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects, Brain, Volume 143, Issue 7, July 2020, Pages 2106-2118, https://doi.org/10.1093/brain/awaa171

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Henrike O Heyne, David Baez-Nieto, Sumaiya Iqbal, Duncan S Palmer, Andreas Brunklaus, Patrick May, Epi25 Collaborative, Katrine M Johannesen, Stephan Lauxmann, Johannes R Lemke, Rikke S Møller, Eduardo Pérez-Palma, Ute I Scholl, Steffen Syrbe, Holger Lerche, Dennis Lal, Arthur J Campbell, Hao-Ran Wang, Jen Pan, Mark J Daly, Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. Science Translational Medicine, Volume 12, Issue 556, Aug 2020, aay6848, doi: 10.1126/scitranslmed.aay6848.

Remi Stevelink, Jurjen J. Luykx, Bochao D. Lin, Costin Leu, Dennis Lal, Alexander W. Smith, Dick Schijven, Johannes A. Carpay, Koen Rademaker, Roiza A. Rodrigues Baldez, Orrin Devinsky, Kees P. J. Braun, Floor E. Jansen, Dirk J. A. Smit, Bobby P. C. Koeleman, International League Against Epilepsy Consortium on Complex Epilepsies, Epi25 Collaborative, Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations. Epilepsia, Volume 62, January 2021, Pages 1518-1527, doi: 10.1111/epi.16922

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Mahmoud Koko, Roland Krause, Thomas Sander, Dheeraj Reddy Bobbili, Michael Nothnagel, Patrick May, Holger Lerche, Epi25 Collaborative, Distinct gene-set burden patterns underlie common generalized and focal epilepsies. eBioMedicine, Volume 72, October 2021, doi: 10.1016/j.ebiom.2021.103588

Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Ciarán Campbell, Costin Leu, Yen-Chen Anne Feng, Stefan Wolking, Claudia Moreau, Colin Ellis, Shiva Ganesan, Helena Martins, Karen Oliver, Isabelle Boothman, Katherine Benson, Anne Molloy, Lawrence Brody, The Epi4K Collaborative, Genomics England Research Consortium, Jacques L. Michaud, Fadi F. Hamdan, Berge A. Minassian, Holger Lerche, Ingrid E. Scheffer, Sanjay Sisodiya, Simon Girard, Patrick Cosette, Norman Delanty, Dennis Lal, Gianpiero L. Cavalleri, The Epi25 Collaborative, The role of common genetic variation in presumed monogenic epilepsies. eBioMedicine, Volume 81, 104098, July 2022, doi: 10.1016/j.ebiom.2022.104098

The role of common genetic variation in presumed monogenic epilepsies

Epi25 WES Browser

The Epi25 whole-exome sequencing (WES) case-control study is one of the collaborative's ongoing endeavors that aims to characterize the contribution of rare genetic variation to a spectrum of epilepsy syndromes to identify individual risk genes. The browser displays the latest findings from the study—as part of the consortium’s deep dedication to data and resource sharing—with the hope of engaging the scientific community to generate hypotheses and facilitate discoveries.