{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T05:55:13Z","timestamp":1778219713335,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T00:00:00Z","timestamp":1742601600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients diagnosed with r20 in our hospital were identified, and clinical data were extracted from medical records. We used the following seizure outcome classification: favorable seizure outcome, a condition in which seizures do not interfere with daily life, including no seizures, subclinical discharges, sleep seizures or mild focal aware seizures; poor seizure outcome, a condition in which seizures interfere with daily life. Clinical variables were compared between favorable and poor seizure outcome groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Forty\u2010seven patients (64% female) were studied. Mean age \u00b1 standard deviation (SD) at epilepsy onset was 7.5\u2009\u00b1\u20093.7 (range 1\u201315) years. Mosaicism rate was 33\u2009\u00b1\u200924% (range 1%\u201397%). Fourteen patients (30%) were classified in the favorable seizure outcome group and 33 (70%) in the poor seizure outcome group. Multivariable analysis identified lower mosaicism rate and higher rate of lamotrigine use as independent factors associated with a favorable seizure outcome. The most effective drug was lamotrigine (69%), followed by valproate (43%) and other sodium channel blockers. Intellectual disability was present in 27 patients (57%), autism spectrum disorder in 8 (17%), and psychiatric symptoms in 10 (21%). Of 30 adult patients, 7 (23%) were employed, 5 (17%) were employed previously but unemployed at the last follow\u2010up, 3 (10%) were employed as disabled, 6 (20%) received employment support, 3 (10%) were college students, and 6 (20%) had no employment history. Twenty\u2010five patients (83%) lived with their families. Two patients (7%) were married.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>In 30% of r20 patients, drug treatment improved seizures to a degree minimally disruptive to daily life. Lamotrigine use was associated with favorable seizure outcome. Social constraints in employment, residence, and marriage were significant, indicating the need for comprehensive epilepsy care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/epi.18370","type":"journal-article","created":{"date-parts":[[2025,3,23]],"date-time":"2025-03-23T13:21:18Z","timestamp":1742736078000},"page":"2444-2453","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Long\u2010term seizure and psychosocial outcomes of patients with ring chromosome 20 syndrome: A cohort study of 47 cases"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2502-5496","authenticated-orcid":false,"given":"Kentaro","family":"Tokumoto","sequence":"first","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuji","family":"Nishida","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Ikeda","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"},{"name":"Osaka Minamimorimachi Ikeda Clinic  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroko","family":"Ikeda","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"},{"name":"Osaka Minamimorimachi Ikeda Clinic  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7251-9336","authenticated-orcid":false,"given":"Norihiko","family":"Kawaguchi","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Mizutani","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tokito","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideyuki","family":"Ohtani","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuko","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9736-7460","authenticated-orcid":false,"given":"Naotaka","family":"Usui","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsumi","family":"Imai","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushi","family":"Inoue","sequence":"additional","affiliation":[{"name":"National Epilepsy Center National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,3,22]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.3.377"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.613035"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.6.939"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0013-4694(98)00069-8"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1998.tb01443.x"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2016.10.004"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17241"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17240"},{"key":"e_1_2_13_10_1","unstructured":"Japan Intractable Disease Information Center.Ring chromosome 20 syndrome. (Designated intractable diseases no. 150). Available from:https:\/\/www.nanbyou.or.jp\/entry\/4577. Accessed 20 Oct 2024."},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528\u20101157.1995.tb01623.x"},{"issue":"5","key":"e_1_2_13_12_1","first-page":"431","article-title":"A new epileptic syndrome: ring chromosome 20\u2013interhemispheric peak delay of spikes","volume":"30","author":"Kamuro K","year":"1998","journal-title":"No To Hattatsu"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/j.1950-6945.1999.tb00331.x"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2012.0508"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2020.1146"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1726281"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1155\/2022\/7414628"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1997.tb01102.x"},{"key":"e_1_2_13_19_1","unstructured":"2020 Population Census Statistics Bureau Ministry of Internal Affairs and Communications. Available from:https:\/\/www.stat.go.jp\/data\/kokusei\/2020\/kekka.html. Accessed 20 Oct 2024."},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1980.tb04072.x"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1984.tb03467.x"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2019.07.020"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2010.09.006"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.458011.x"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0013-9580.2004.44203.x"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02648.x"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)31129-2"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.18370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T09:07:25Z","timestamp":1762679245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.18370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,22]]},"references-count":26,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1111\/epi.18370"],"URL":"https:\/\/doi.org\/10.1111\/epi.18370","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,22]]},"assertion":[{"value":"2024-11-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-22","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}