{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:49:34Z","timestamp":1791200974481,"version":"4.2.0"},"reference-count":10,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T00:00:00Z","timestamp":1343692800000},"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":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2012,10]]},"abstract":"<jats:p>\n                    <jats:italic>PRRT2<\/jats:italic>\n                    is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with\n                    <jats:italic>PRRT2<\/jats:italic>\n                    mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile paroxysmal torticollis, then benign infantile epilepsy that responded to carbamazepine. The index patient\u2019s father had PKD and migraine with aphasia, and his two brothers had hemiplegic migraine with onset in childhood. All four family members had the same\n                    <jats:italic>PRRT2<\/jats:italic>\n                    c.649dupC mutation. We conclude that heterogeneous paroxysmal disorders are associated with\n                    <jats:italic>PRRT2<\/jats:italic>\n                    mutations and include paroxysmal torticollis and hemiplegic migraine. We propose that\n                    <jats:italic>PRRT2<\/jats:italic>\n                    is a new gene for hemiplegic migraine.\n                  <\/jats:p>","DOI":"10.1111\/j.1469-8749.2012.04394.x","type":"journal-article","created":{"date-parts":[[2012,7,31]],"date-time":"2012-07-31T01:54:32Z","timestamp":1343699672000},"page":"958-960","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":107,"title":["Familial\n                    <i>PRRT2<\/i>\n                    mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine"],"prefix":"10.1111","volume":"54","author":[{"given":"RUSSELL C","family":"DALE","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ALICE","family":"GARDINER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JAYNE","family":"ANTONY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HENRY","family":"HOULDEN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,7,31]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.003"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1008"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31823152d7"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2012.02.006"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr289"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100635"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100653"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70048-5"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04154.x"}],"container-title":["Developmental Medicine &amp; Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1469-8749.2012.04394.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1469-8749.2012.04394.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T06:25:44Z","timestamp":1698733544000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1469-8749.2012.04394.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,31]]},"references-count":10,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1111\/j.1469-8749.2012.04394.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04394.x","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.717967481.793467140","asserted-by":"object"}]},"ISSN":["0012-1622","1469-8749"],"issn-type":[{"value":"0012-1622","type":"print"},{"value":"1469-8749","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,7,31]]},"assertion":[{"value":"2012-07-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}