{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T22:31:37Z","timestamp":1787524297949,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,1,8]],"date-time":"2016-01-08T00:00:00Z","timestamp":1452211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2016,3]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Autosomal dominant cortical tremor, myoclonus, and epilepsy (<jats:styled-content style=\"fixed-case\">ADCME<\/jats:styled-content>)\/familial adult onset myoclonic epilepsy (<jats:styled-content style=\"fixed-case\">FAME<\/jats:styled-content>) is a nonprogressive disorder characterized by (1) distal tremors that are usually precipitated by posture and action; (2) stimulus\u2010sensitive myoclonus that is predominantly seen in the upper limb and is precipitated by photic stimuli, fatigue, emotional stress, and sleep deprivation; (3) seizures that were predominantly of the generalized tonic\u2013clonic type that showed significant response to antiepileptic drugs (<jats:styled-content style=\"fixed-case\">AED<\/jats:styled-content>s). <jats:styled-content style=\"fixed-case\">ADCME<\/jats:styled-content> has been reported worldwide with different genetic loci in Japanese families (8q23.3\u2010q24.1), Italian families (2p11.1\u2010q12.2), a French family (5p15.3.1\u2010p15.1), and a Thai family (3q26.32\u2010q28). <jats:styled-content style=\"fixed-case\">ADCME<\/jats:styled-content> has not been reported in South India and is still not recognized as an independent entity under the International League Against Epilepsy (<jats:styled-content style=\"fixed-case\">ILAE<\/jats:styled-content>). We report 241 patients with <jats:styled-content style=\"fixed-case\">ADCME<\/jats:styled-content> identified belonging to 48 families. The 48 families are domiciled in two southern districts of Tamilnadu in India, belonging to a community called \u201cNadar\u201d whose nativity is confined to these southern districts, with reported unique genetic characteristics. This study is reported for the presentation of this rare disease in a unique ethnic group, and is the largest single report on <jats:styled-content style=\"fixed-case\">ADCME<\/jats:styled-content> worldwide.<\/jats:p>","DOI":"10.1111\/epi.13303","type":"journal-article","created":{"date-parts":[[2016,1,10]],"date-time":"2016-01-10T10:32:54Z","timestamp":1452421974000},"source":"Crossref","is-referenced-by-count":17,"title":["Autosomal dominant cortical tremor, myoclonus, and epilepsy (<scp>ADCME<\/scp>) in a unique south Indian community"],"prefix":"10.1111","volume":"57","author":[{"given":"Radha","family":"Mahadevan","sequence":"first","affiliation":[{"name":"Department of Neurology Tirunelveli Medical College Tirunelveli Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natarajan","family":"Viswanathan","sequence":"additional","affiliation":[{"name":"Institute of Neurology Madras Medical College Chennai Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganesan","family":"Shanmugam","sequence":"additional","affiliation":[{"name":"Department of Neurology Tirunelveli Medical College Tirunelveli Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saravanan","family":"Sankaralingam","sequence":"additional","affiliation":[{"name":"Department of Neurology Tirunelveli Medical College Tirunelveli Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobby","family":"Essaki","sequence":"additional","affiliation":[{"name":"Department of Neurology Tirunelveli Medical College Tirunelveli Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel P.","family":"Chelladurai","sequence":"additional","affiliation":[{"name":"Department of Neurology Tirunelveli Medical College Tirunelveli Tamilnadu India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,1,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/124.12.2459"},{"key":"e_1_2_9_3_1","first-page":"1051","volume-title":"Atlas of Epilepsies","author":"Striano P"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.10.1561"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03017.x"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00245-6"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302535"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3181e396a8"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.133"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24028"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-008-0118-4"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.144025"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.1.80"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870120316"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01222.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1080\/09723757.2004.11885879"},{"key":"e_1_2_9_17_1","first-page":"1066","volume-title":"HLA 1991. Proceedings of the Eleventh International Histocompatibility Workshop and Conference","author":"Imanishi T","year":"1992"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-013-1075-4"}],"container-title":["Epilepsia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fepi.13303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/epi.13303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T09:18:21Z","timestamp":1695547101000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/epi.13303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,8]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"alternative-id":["10.1111\/epi.13303"],"URL":"https:\/\/doi.org\/10.1111\/epi.13303","archive":["Portico"],"relation":{},"ISSN":["0013-9580","1528-1167"],"issn-type":[{"value":"0013-9580","type":"print"},{"value":"1528-1167","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,1,8]]}}}