{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T05:40:35Z","timestamp":1782366035208,"version":"3.54.5"},"reference-count":23,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,12,1]],"date-time":"2019-12-01T00:00:00Z","timestamp":1575158400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Chief of Pediatric Neurology Division-University of Florence"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1016\/j.ejmg.2018.11.025","type":"journal-article","created":{"date-parts":[[2018,11,27]],"date-time":"2018-11-27T05:56:14Z","timestamp":1543298174000},"page":"103591","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders"],"prefix":"10.1016","volume":"62","author":[{"given":"Mario","family":"Mastrangelo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Sartori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6908-5418","authenticated-orcid":false,"given":"Alessandro","family":"Simonati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Brinciotti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Moro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Nosadini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1590-4558","authenticated-orcid":false,"given":"Francesco","family":"Pezzini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Doccini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo Maria","family":"Santorelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2018.11.025_bib1","first-page":"11","article-title":"Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons","volume":"44","author":"Azieh","year":"2011","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.ejmg.2018.11.025_bib2","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1093\/qjmed\/93.12.787","article-title":"Neurological potassium channelopathies","volume":"93","author":"Benatar","year":"2000","journal-title":"QJM"},{"key":"10.1016\/j.ejmg.2018.11.025_bib3","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1528-1167.2010.02522.x","article-title":"Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009","volume":"51","author":"Berg","year":"2010","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejmg.2018.11.025_bib4","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1007\/s00415-012-6545-z","article-title":"A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome","volume":"259","author":"Blumkin","year":"2012","journal-title":"J. Neurol."},{"issue":"7","key":"10.1016\/j.ejmg.2018.11.025_bib5","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1177\/0883073815624762","article-title":"Alexander disease: a novel mutation in GFAP leading to EpilepsiaPartialis continua","volume":"31","author":"Bonthius","year":"2016","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.ejmg.2018.11.025_bib6","doi-asserted-by":"crossref","first-page":"2048","DOI":"10.1074\/jbc.M602180200","article-title":"Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis","volume":"281","author":"Cao","year":"2006","journal-title":"J. Biol. Chem."},{"issue":"9","key":"10.1016\/j.ejmg.2018.11.025_bib7","doi-asserted-by":"crossref","first-page":"e106","DOI":"10.1111\/epi.12730","article-title":"Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia","volume":"55","author":"Farhan","year":"2014","journal-title":"Epilepsia"},{"issue":"3","key":"10.1016\/j.ejmg.2018.11.025_bib8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.braindev.2016.09.013","article-title":"Complex I deficiency related to T10158C mutation ND3 gene: a further definition of the clinical spectrum","volume":"39","author":"Grosso","year":"2017","journal-title":"Brain Dev."},{"issue":"7","key":"10.1016\/j.ejmg.2018.11.025_bib9","doi-asserted-by":"crossref","first-page":"1188","DOI":"10.1111\/ene.13003","article-title":"ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?","volume":"23","author":"Hikmat","year":"2016","journal-title":"Eur. J. Neurol."},{"key":"10.1016\/j.ejmg.2018.11.025_bib10","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1111\/epi.13306","article-title":"Epileptic encephalopathy: use and misuse of a clinically and conceptually important concept","volume":"57","author":"Howell","year":"2016","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejmg.2018.11.025_bib11","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1136\/jmedgenet-2012-100859","article-title":"Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene","volume":"49","author":"Kousi","year":"2012","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ejmg.2018.11.025_bib12","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1111\/j.1469-1809.2012.00710.x","article-title":"Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy","volume":"76","author":"Krabichler","year":"2012","journal-title":"Ann. Hum. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2018.11.025_bib13","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1111\/j.1528-1167.2012.03516.x","article-title":"Targeted next generation sequencing as a diagnostic tool in epileptic disorders","volume":"53","author":"Lemke","year":"2012","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejmg.2018.11.025_bib14","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/j.seizure.2016.10.010","article-title":"Epilepsiapartialis continua: a review","volume":"44","author":"Mameni\u0161kien\u0117","year":"2017","journal-title":"Seizure"},{"issue":"Pt 12","key":"10.1016\/j.ejmg.2018.11.025_bib15","doi-asserted-by":"crossref","first-page":"3109","DOI":"10.1093\/brain\/aww244","article-title":"Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport","volume":"139","author":"Moen","year":"2016","journal-title":"Brain"},{"key":"10.1016\/j.ejmg.2018.11.025_bib16","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/humu.23149","article-title":"Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes","volume":"38","author":"Parrini","year":"2017","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ejmg.2018.11.025_bib17","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.seizure.2017.03.003","article-title":"Alternating Hemiplegia and EpilepsiaPartialis Continua: a new phenotype for a novel compound TBC1D24 mutation","volume":"47","author":"Ragona","year":"2017","journal-title":"Seizure"},{"key":"10.1016\/j.ejmg.2018.11.025_bib18","first-page":"525784","article-title":"Menkes disease presenting with epilepsia partialis continua","volume":"2014","author":"Rizk","year":"2014","journal-title":"Case Rep. Neurol. Med."},{"issue":"4","key":"10.1016\/j.ejmg.2018.11.025_bib19","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"alILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.ejmg.2018.11.025_bib20","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ajhg.2012.05.023","article-title":"A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system","volume":"91","author":"Staropoli","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2018.11.025_bib21","first-page":"46","article-title":"The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients","volume":"13","author":"Vairo","year":"2017","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.ejmg.2018.11.025_bib22","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ana.21121","article-title":"Mutation of a potassium channel-related gene in progressive myoclonic epilepsy","volume":"61","author":"Van Bogaert","year":"2007","journal-title":"Ann. Neurol."},{"issue":"S2","key":"10.1016\/j.ejmg.2018.11.025_bib23","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1684\/epd.2016.0856","article-title":"KCTD7-related progressive myoclonus epilepsy","volume":"18","author":"Van Bogaert","year":"2016","journal-title":"Epileptic Disord."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121830404X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S176972121830404X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:47:42Z","timestamp":1761709662000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S176972121830404X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12]]},"references-count":23,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["S176972121830404X"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.025","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2019,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2018.11.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"103591"}}