{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T22:34:57Z","timestamp":1791239697981,"version":"4.1.0"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","ejpn-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.1016\/j.ejpn.2020.06.005","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T03:43:18Z","timestamp":1592883798000},"page":"193-197","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"special_numbering":"C","title":["Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients"],"prefix":"10.1016","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0212-8318","authenticated-orcid":false,"given":"Ganna","family":"Balagura","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9152-5571","authenticated-orcid":false,"given":"Antonella","family":"Riva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1977-9275","authenticated-orcid":false,"given":"Francesca","family":"Marchese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Iacomino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thea","family":"Giacomini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Margherita","family":"Mancardi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Amadori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Stella","family":"Vari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Salpietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tullio","family":"Messana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaia","family":"Vignoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Chiesa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorella","family":"Caffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Orsini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Bonuccelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Santucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilena","family":"Vecchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Vanadia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Milito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Cricchiutti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marilisa","family":"Carpentieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Margari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Spalice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Beccaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Benfenati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.ejpn.2020.06.005_bib1","doi-asserted-by":"crossref","first-page":"4581","DOI":"10.1074\/jbc.AAC118.002651","article-title":"A\u00a0novel topology of proline-rich transmembrane protein 2 (PRRT2): hints for an intracellular function at the synapse","volume":"293","author":"Rossi","year":"2018","journal-title":"J.\u00a0Biol. Chem."},{"issue":"10","key":"10.1016\/j.ejpn.2020.06.005_bib2","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.tins.2016.08.005","article-title":"PRRT2: from paroxysmal disorders to regulation of synaptic function","volume":"39","author":"Valtorta","year":"2016","journal-title":"Trends Neurosci."},{"issue":"4","key":"10.1016\/j.ejpn.2020.06.005_bib3","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1093\/brain\/awy051","article-title":"PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2\/1.6 activity","volume":"141","author":"Fruscione","year":"2018","journal-title":"Brain"},{"issue":"Issue 12","key":"10.1016\/j.ejpn.2020.06.005_bib4","doi-asserted-by":"crossref","first-page":"3476","DOI":"10.1093\/brain\/awv317","article-title":"The evolving spectrum of PRRT2-associated paroxysmal diseases","volume":"138","author":"Ebrahimi-Fakhari","year":"2015","journal-title":"Brain"},{"issue":"12","key":"10.1016\/j.ejpn.2020.06.005_bib5","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."},{"issue":"2","key":"10.1016\/j.ejpn.2020.06.005_bib6","doi-asserted-by":"crossref","first-page":"e66","DOI":"10.1212\/NXG.0000000000000066","article-title":"Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene","volume":"2","author":"Liu","year":"2016","journal-title":"Neurol. Genet."},{"issue":"21","key":"10.1016\/j.ejpn.2020.06.005_bib7","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1212\/WNL.0b013e3182752cb8","article-title":"PRRT2 mutations cause hemiplegic migraine","volume":"79","author":"Riant","year":"2012","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejpn.2020.06.005_bib8","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1016\/j.ejpn.2016.01.010","article-title":"Expanding phenotype of PRRT2 gene mutations: a new case with epilepsy and benign myoclonus of early infancy","volume":"20","author":"Maini","year":"2016","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"4","key":"10.1016\/j.ejpn.2020.06.005_bib9","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"issue":"12","key":"10.1016\/j.ejpn.2020.06.005_bib10","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1212\/01.WNL.0000147298.05983.50","article-title":"Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia","volume":"63","author":"Bruno","year":"2004","journal-title":"Neurology"},{"issue":"3","key":"10.1016\/j.ejpn.2020.06.005_bib11","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1111\/epi.12089","article-title":"Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance","volume":"54","author":"Zara","year":"2013","journal-title":"Epilepsia"},{"issue":"8","key":"10.1016\/j.ejpn.2020.06.005_bib12","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/brain\/awz195","article-title":"Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort","volume":"142","author":"Symonds","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.ejpn.2020.06.005_bib13","article-title":"The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures","author":"van Roest","year":"2019","journal-title":"Eur. J. Paediatr. Neurol."},{"issue":"6","key":"10.1016\/j.ejpn.2020.06.005_bib14","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1111\/ene.12104","article-title":"PRRT2 mutations and paroxysmal disorders","volume":"20","author":"M\u00e9neret","year":"2013","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ejpn.2020.06.005_bib15","first-page":"1234","article-title":"PRRT2-related disorders: further PKD and ICCA cases and review of the literature","volume":"260","author":"Becker","year":"2013","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.ejpn.2020.06.005_bib16","doi-asserted-by":"crossref","DOI":"10.1002\/brb3.1597","article-title":"Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy","author":"Yang","year":"2020","journal-title":"Brain Behav."},{"key":"10.1016\/j.ejpn.2020.06.005_bib17","article-title":"Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders","author":"Zhao","year":"2019","journal-title":"CNS Neurosci. Ther."}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379820301136?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379820301136?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T18:36:55Z","timestamp":1761071815000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379820301136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":17,"alternative-id":["S1090379820301136"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2020.06.005","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients","name":"articletitle","label":"Article Title"},{"value":"European Journal of Paediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejpn.2020.06.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}