{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T00:41:50Z","timestamp":1761007310462,"version":"build-2065373602"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,5,23]],"date-time":"2017-05-23T00:00:00Z","timestamp":1495497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP26461392"],"award-info":[{"award-number":["JP26461392"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Paroxysmal kinesigenic dyskinesia (<jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content>) is a sporadic or autosomal\u2010dominant, hereditary disorder characterized by brief, recurrent attacks of involuntary movements triggered by sudden, voluntary movement that generally develops during childhood and adolescence and is typically treated with carbamazepine. The proline\u2010rich transmembrane protein 2 (<jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic>) gene contains 4 exons that encode 340 amino acids as the major isoform, and recent research has identified <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> as the primary causative gene in <jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content>, benign familial infantile epilepsy (<jats:styled-content style=\"fixed-case\">BFIE<\/jats:styled-content>), and infantile convulsions with <jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">IC<\/jats:styled-content>). Here, the authors report the phenotype of a family with a novel p.E16X (c.46G&gt;T) nonsense mutation of the <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> gene that lacked almost a full allele. In this family, none of the individuals in the pedigree exhibited evidence of cognitive impairment: the elder brother had <jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">IC<\/jats:styled-content> with migraine; the younger brother had <jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content> with ataxia; the father had <jats:styled-content style=\"fixed-case\">PKD<\/jats:styled-content>; both siblings experienced a sensory aura; and all 3 had a history of febrile seizures. This is the first report of a short nonsense mutation in <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> and indicates that the manifestations of the disease, including other mutations to date, can be explained by haploinsufficiency and that 1 intact <jats:italic><jats:styled-content style=\"fixed-case\">PRRT<\/jats:styled-content>2<\/jats:italic> allele can allow normal cognitive development.<\/jats:p>","DOI":"10.1002\/mdc3.12500","type":"journal-article","created":{"date-parts":[[2017,4,17]],"date-time":"2017-04-17T04:02:45Z","timestamp":1492401765000},"page":"625-628","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A Novel Truncation Mutation of the <i><scp>PRRT<\/scp>2<\/i> Gene Resulting in a 16\u2010Amino\u2010Acid Protein Causes Self\u2010inducible Paroxysmal Kinesigenic Dyskinesia"],"prefix":"10.1002","volume":"4","author":[{"given":"Makoto","family":"Kita","sequence":"first","affiliation":[{"name":"National Hospital Organization Kyoto Medical Center Department of Pediatrics Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhiro","family":"Kuwata","sequence":"additional","affiliation":[{"name":"National Hospital Organization Kyoto Medical Center Department of Neurology Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nagako","family":"Murase","sequence":"additional","affiliation":[{"name":"National Hospital Organization Kyoto Medical Center Department of Neurology Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuichi","family":"Akiyama","sequence":"additional","affiliation":[{"name":"National Hospital Organization Kyoto Medical Center Department of Pediatrics Kyoto Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Usui","sequence":"additional","affiliation":[{"name":"Shizuoka General Hospital Department of Medical Genetics Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000147298.05983.50"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002079"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr289"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2016.08.005"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.683888"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.03.005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.9258"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12009"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.25933"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12500","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12500","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:13:47Z","timestamp":1760962427000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12500"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,23]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/mdc3.12500"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12500","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"type":"print","value":"2330-1619"},{"type":"electronic","value":"2330-1619"}],"subject":[],"published":{"date-parts":[[2017,5,23]]},"assertion":[{"value":"2016-12-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-03-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-05-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}