{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:03:55Z","timestamp":1790982235529,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T00:00:00Z","timestamp":1716595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study was undertaken to estimate incidence of rare epilepsies and compare with literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We used electronic health record text search to identify children with 28 rare epilepsies in New York City (2010\u20132014). We estimated cumulative incidence and compared with literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eight of 28 rare epilepsies had five or more prior estimates, and our measurements were within the published range for all. The most common were infantile epileptic spasms syndrome (1 in 2920 live births), Lennox\u2013Gastaut syndrome (1 in 9690), and seizures associated with tuberous sclerosis complex (1 in 14\u2009300). Fifteen of 28 had fewer than five prior estimates, and of these, we provided additional estimates for early infantile developmental and epileptic encephalopathy (1 in 32\u2009700), epilepsy with myoclonic\u2013atonic seizures (1 in 34\u2009100), Sturge\u2013Weber syndrome plus seizures\/epilepsy (1 in 40\u2009900), epilepsy in infancy with migrating focal seizures (1 in 54\u2009500), Aicardi syndrome plus seizures\/epilepsy (1 in 71\u2009600), hypothalamic hamartoma with seizures (1 in 225\u2009000), and Rasmussen syndrome (1 in 450\u2009000). Five of 28 rare epilepsies had no prior estimates, and of these, we provided a new estimate for developmental\/epileptic encephalopathy with spike\u2010and\u2010wave activation in sleep and\/or continuous spikes and waves during sleep (1 in 34\u2009100). Data were limited for the remaining 12 rare epilepsies, which were all genetic epilepsies, including <jats:italic>PCDH19<\/jats:italic>, <jats:italic>CDKL5<\/jats:italic>, Alpers disease, <jats:italic>SCN8A<\/jats:italic>, <jats:italic>KCNQ2<\/jats:italic>, <jats:italic>SCN2A<\/jats:italic>, GLUT1 deficiency, Phelan\u2010McDermid syndrome, myoclonic epilepsy with ragged\u2010red fibers, dup15q syndrome, ring chromosome 14, and ring chromosome 20.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>We estimated the incidence of rare epilepsies using population\u2010based electronic health record data and literature review. More research is needed to better estimate the incidence of genetic epilepsies with nonspecific clinical features. Electronic health records may be a valuable data source for studying rare epilepsies and other rare diseases, particularly as genetic testing becomes more widely adopted.<\/jats:p><\/jats:sec>","DOI":"10.1111\/epi.18029","type":"journal-article","created":{"date-parts":[[2024,5,25]],"date-time":"2024-05-25T15:06:41Z","timestamp":1716649601000},"page":"2341-2353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<scp>Population\u2010based<\/scp> study of rare epilepsy incidence in a <scp>US<\/scp> urban population"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0293-0108","authenticated-orcid":false,"given":"Kristen","family":"Barbour","sequence":"first","affiliation":[{"name":"University of California, San Diego  San Diego California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9380-0207","authenticated-orcid":false,"given":"Niu","family":"Tian","sequence":"additional","affiliation":[{"name":"Centers for Disease Control and Prevention  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8230-8364","authenticated-orcid":false,"given":"Elissa G.","family":"Yozawitz","sequence":"additional","affiliation":[{"name":"Montefiore Medical Center Albert Einstein College of Medicine  Bronx New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7602-3474","authenticated-orcid":false,"given":"Steven","family":"Wolf","sequence":"additional","affiliation":[{"name":"Boston Children's Health Physicians  Hawthorne New York USA"},{"name":"New York Medical College  Valhalla New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia E.","family":"McGoldrick","sequence":"additional","affiliation":[{"name":"Boston Children's Health Physicians  Hawthorne New York USA"},{"name":"New York Medical College  Valhalla New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7285-1195","authenticated-orcid":false,"given":"Tristan T.","family":"Sands","sequence":"additional","affiliation":[{"name":"Columbia University Irving Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Nelson","sequence":"additional","affiliation":[{"name":"New York University Langone Medical Center  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natasha","family":"Basma","sequence":"additional","affiliation":[{"name":"Weill Cornell Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6705-0932","authenticated-orcid":false,"given":"Zachary M.","family":"Grinspan","sequence":"additional","affiliation":[{"name":"Weill Cornell Medicine  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,25]]},"reference":[{"issue":"249","key":"e_1_2_11_2_1","article-title":"Comorbidities of rare epilepsies: results from the rare epilepsy network","volume":"203","author":"Ho NT","year":"2018","journal-title":"J Pediatr"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-62702-5.00011-1"},{"key":"e_1_2_11_4_1","volume-title":"Sturge\u2010Weber Syndrome","author":"Singh AK","year":"2022"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12095"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17725"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17239"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70292-8"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12894"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb01136.x"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1999.tb00705.x"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb00065.x"},{"key":"e_1_2_11_13_1","unstructured":"PCORI.New York City Clinical Data Research Network (NYC\u2010CDRN). 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