{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:54:03Z","timestamp":1781081643106,"version":"3.54.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2013,5,1]],"date-time":"2013-05-01T00:00:00Z","timestamp":1367366400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2013,5]]},"DOI":"10.1016\/j.ejpn.2012.10.010","type":"journal-article","created":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T14:45:26Z","timestamp":1353336326000},"page":"254-258","source":"Crossref","is-referenced-by-count":21,"title":["PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins"],"prefix":"10.1016","volume":"17","author":[{"given":"Claudia","family":"Castiglioni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Riant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Terracciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2012.10.010_bib1","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s004150050318","article-title":"Paroxysmal kinesigenic choreoathetosis: a report of 26 cases","volume":"246","author":"Houser","year":"1999","journal-title":"J Neurol"},{"key":"10.1016\/j.ejpn.2012.10.010_bib2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.ejpn.2007.07.009","article-title":"Paediatric and adult movement disorders (update 2)","volume":"12","author":"Morrison","year":"2008","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2012.10.010_bib3","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1038\/ng.1008","article-title":"Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia","volume":"43","author":"Chen","year":"2011","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2012.10.010_bib4","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1093\/brain\/awr289","article-title":"Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias","volume":"134","author":"Wang","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2012.10.010_bib5","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.celrep.2011.11.001","article-title":"Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions","volume":"26","author":"Lee","year":"2012","journal-title":"Cell Rep"},{"key":"10.1016\/j.ejpn.2012.10.010_bib6","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jnnp.68.5.609","article-title":"A new family with paroxysmal exercise-induced dystonia and migraine: a clinical and genetic study","volume":"68","author":"M\u00fcnchau","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.ejpn.2012.10.010_bib7","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1002\/humu.22126","article-title":"PRRT2 Mutations are the major cause of benign familial infantile seizures","volume":"33","author":"Schubert","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejpn.2012.10.010_bib8","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.ejpn.2012.07.006","article-title":"PRRT2 is mutated in familial and non-familial benign infantile seizures","volume":"17","author":"Specchio","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.ejpn.2012.10.010_bib9","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1002\/mds.23765","article-title":"Paroxysmal dyskinesias","volume":"26","author":"Bhatia","year":"2011","journal-title":"Mov Disord"},{"key":"10.1016\/j.ejpn.2012.10.010_bib10","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1684\/j.1950-6945.1999.tb00303.x","article-title":"Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms","volume":"1","author":"Singh","year":"1999","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.ejpn.2012.10.010_bib11","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1111\/j.1469-8749.2012.04394.x","article-title":"Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine","volume":"54","author":"Dale","year":"2012","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.ejpn.2012.10.010_bib12","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S1474-4422(11)70048-5","article-title":"Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management","volume":"10","author":"Russell","year":"2011","journal-title":"Lancet Neurol"},{"issue":"Suppl. 1","key":"10.1016\/j.ejpn.2012.10.010_bib13","article-title":"The international classification of headache disorders","volume":"24","year":"2004","journal-title":"Cephalalgia"},{"key":"10.1016\/j.ejpn.2012.10.010_bib14","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1212\/01.wnl.0000262029.91552.e0","article-title":"Genotype\u2013phenotype correlation of paroxysmal nonkinesigenic dyskinesia","volume":"68","author":"Bruno","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2012.10.010_bib15","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1212\/WNL.0b013e31825f06c3","article-title":"PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population","volume":"79","author":"M\u00e9neret","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2012.10.010_bib16","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1136\/jmedgenet-2011-100653","article-title":"Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression","volume":"49","author":"Liu","year":"2012","journal-title":"J Med Genet"},{"key":"10.1016\/j.ejpn.2012.10.010_bib17","doi-asserted-by":"crossref","first-page":"1627","DOI":"10.1073\/pnas.251673298","article-title":"The SNARE proteinSNAP-25 is linked to fast calcium triggering of exocytosis","volume":"99","author":"S\u00f8rensen","year":"2011","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.ejpn.2012.10.010_bib18","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.pediatrneurol.2004.12.004","article-title":"Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia","volume":"32","author":"Margari","year":"2005","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ejpn.2012.10.010_bib19","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1097\/YPG.0b013e3283053019","article-title":"Coregulation of genes in the mouse brain following treatment with clozapine, haloperidol, or olanzapine implicates altered potassium channel subunit expression in the mechanism of antipsychotic drug action","volume":"18","author":"Duncan","year":"2008","journal-title":"Psychiatr Genet"},{"key":"10.1016\/j.ejpn.2012.10.010_bib20","doi-asserted-by":"crossref","first-page":"e27673","DOI":"10.1371\/journal.pone.0027673","article-title":"Design, synthesis, and pharmacological evaluation of haloperidol derivatives as novel potent calcium channel blockers with vasodilator activity","volume":"6","author":"Chen","year":"2011","journal-title":"PLoS One"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379812002292?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379812002292?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T13:58:48Z","timestamp":1714571928000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379812002292"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["S1090379812002292"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2012.10.010","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2013,5]]}}}