{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T19:58:54Z","timestamp":1776369534178,"version":"3.51.2"},"reference-count":35,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":46,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"NHGRI","doi-asserted-by":"publisher","award":["5RM1HG010860"],"award-info":[{"award-number":["5RM1HG010860"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009210","name":"Food and Drug Administration","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009210","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Motivation: Epilepsy is a diverse group of neurological disorders affecting over 50 million people worldwide. While common epilepsy types are well studied, rare epilepsies\u2014often severe and genetically complex\u2014pose significant challenges in diagnosis, research, and treatment. Accurate and interoperable etiology and disease classifications are critical for improving data sharing, supporting clinical decision-making, and advancing rare disease research. Results: To enhance the accuracy of epilepsy-related disease concept representation within the Mondo Disease Ontology (Mondo), we conducted a series of expert-driven workshops in collaboration with the team from the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP). Specialists in epileptology, genetics, neurodevelopment, biomedical ontology, and patient community advocates systematically reviewed and revised the epilepsy hierarchy in Mondo, aligning it with the International League Against Epilepsy (ILAE) classification system. These updates include reclassification of epilepsy subtypes, including syndromes, age-related epilepsies, and developmental epileptic encephalopathies, resulting in a more granular, standardized, and clinically relevant structure. Mondo now offers an enhanced framework for integrating epilepsy data across resources, enabling improved interoperability and facilitating rare disease research and data curation, with continued efforts underway to further refine and expand this integration.<\/jats:p>","DOI":"10.1093\/database\/baag004","type":"journal-article","created":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T12:41:35Z","timestamp":1768394495000},"source":"Crossref","is-referenced-by-count":0,"title":["Epilepsy disease classification: a community effort to enhance the Mondo Disease Ontology"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5208-3432","authenticated-orcid":false,"given":"Nicole","family":"Vasilevsky","sequence":"first","affiliation":[{"name":"Critical Path Institute , 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Gehrke","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5002-8648","authenticated-orcid":false,"given":"Kathleen","family":"Mullen","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subit","family":"Barua","sequence":"additional","affiliation":[{"name":"Health Sciences Campus Department of Pathology, Anatomy & Laboratory Medicine, West Virginia University, , 763 Chestnut Ridge Rd. Morgantown, WV 26505 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2389-9288","authenticated-orcid":false,"given":"Ian","family":"Braun","sequence":"additional","affiliation":[{"name":"Critical Path Institute , 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Br\u00fcnger","sequence":"additional","affiliation":[{"name":"The University of Texas Health Science Center at Houston , 7000 Fannin, Suite 1706. Houston, Texas 77030 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"II","given":"Curtis","family":"Coughlin","sequence":"additional","affiliation":[{"name":"University of Colorado Anschutz , 13001 E 17th Pl, Aurora, CO 80045 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alina","family":"Ivaniuk","sequence":"additional","affiliation":[{"name":"Mayo Clinic Florida , 4500 San Pablo Road Jacksonville, FL 32224 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1780-9872","authenticated-orcid":false,"given":"Daniel","family":"Korn","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5173-9636","authenticated-orcid":false,"given":"Dennis","family":"Lal","sequence":"additional","affiliation":[{"name":"The University of Texas Health Science Center at Houston , 7000 Fannin, Suite 1706. Houston, Texas 77030 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Marsh","sequence":"additional","affiliation":[{"name":"Critical Path Institute , 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"O\u2019Loughlin","sequence":"additional","affiliation":[{"name":"CURE Epilepsy , 420 N. Wabash Avenue, Suite 650. Chicago, IL 60611 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Olson","sequence":"additional","affiliation":[{"name":"Critical Path Institute , 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousif","family":"Shwetar","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christalena","family":"Sofocleous","sequence":"additional","affiliation":[{"name":"National and Kapodistrian University of Athens School of Medicine , 75 Mikras Asias Street, Goudi, 11527 Athens ,","place":["Greece"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Vogel-Farley","sequence":"additional","affiliation":[{"name":"Rare Epilepsy Network , 12042 Cedar Creek Rd, Cedarburg, WI 53012 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi","family":"Grabenstatter","sequence":"additional","affiliation":[{"name":"Critical Path Institute , 1840 E River Rd, Suite 100 Tucson, AZ 85718-5960 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9114-8737","authenticated-orcid":false,"given":"Melissa","family":"Haendel","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6601-2165","authenticated-orcid":false,"given":"Christopher","family":"Mungall","sequence":"additional","affiliation":[{"name":"Genomics, Lawrence Berkeley National Laboratory , 1 Cyclotron Road, Berkeley, CA 94720 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Toro","sequence":"additional","affiliation":[{"name":"The University of North Carolina at Chapel Hill , 120 Mason Farm Road, 5000 D Genetic Medicine Building CB#7264, Chapel Hill, NC 27599-7264 ,","place":["United States"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,2,16]]},"reference":[{"key":"2026041615025465600_bib1","doi-asserted-by":"publisher","first-page":"e203","DOI":"10.1016\/S2468-2667(24)00302-5","article-title":"Global, regional, and national burden of epilepsy, 1990\u20132021: a systematic analysis for the Global Burden of Disease Study 2021","volume":"10","author":"GBD Epilepsy Collaborators","year":"2025","journal-title":"Lancet Public Health"},{"key":"2026041615025465600_bib2","doi-asserted-by":"publisher","first-page":"885","DOI":"10.1002\/ajmg.a.61124","article-title":"The burden of rare diseases","volume":"179","author":"Ferreira","year":"2019","journal-title":"Am J Med Genet A"},{"key":"2026041615025465600_bib3","doi-asserted-by":"publisher","DOI":"10.46982\/gjmt.2023.108","article-title":"Navigating the complexity of rare diseases: challenges, innovations, and future directions","volume":"5","author":"Ibrahim","year":"2023","journal-title":"Glob J Med Ther"},{"key":"2026041615025465600_bib4","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1152\/physrev.00063.2021","article-title":"Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum","volume":"103","author":"Guerrini","year":"2023","journal-title":"Physiol Rev"},{"key":"2026041615025465600_bib5","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1007\/s10309-024-00706-4","article-title":"Rare and complex epilepsies\u2014challenges in diagnostics and treatment. 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