{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:15:46Z","timestamp":1785795346988,"version":"3.56.0"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,5,12]],"date-time":"2019-05-12T00:00:00Z","timestamp":1557619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"Ministry of Science and Technology of China","award":["2016YFC0904400"],"award-info":[{"award-number":["2016YFC0904400"]}]},{"name":"Ministry of Science and Technology of China","award":["2016YFC0904401"],"award-info":[{"award-number":["2016YFC0904401"]}]},{"DOI":"10.13039\/501100010270","name":"The capital health research and development of special","doi-asserted-by":"crossref","award":["2016-1-2011"],"award-info":[{"award-number":["2016-1-2011"]}],"id":[{"id":"10.13039\/501100010270","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","seizure-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seizure"],"published-print":{"date-parts":[[2019,7]]},"DOI":"10.1016\/j.seizure.2019.05.010","type":"journal-article","created":{"date-parts":[[2019,5,13]],"date-time":"2019-05-13T01:38:53Z","timestamp":1557711533000},"page":"228-234","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":14,"special_numbering":"C","title":["Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations"],"prefix":"10.1016","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8120-1258","authenticated-orcid":false,"given":"Jing","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiaoyang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojuan","family":"Tian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhixian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiru","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuehua","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.seizure.2019.05.010_bib0005","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1038\/nsmb.3297","article-title":"Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function","volume":"23","author":"Fischer","year":"2016","journal-title":"Nat Struct Mol Biol"},{"key":"10.1016\/j.seizure.2019.05.010_bib0010","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1212\/WNL.0000000000002807","article-title":"TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features","volume":"87","author":"Balestrini","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.seizure.2019.05.010_bib0015","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.ajhg.2010.07.020","article-title":"TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy","volume":"87","author":"Falace","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0020","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ajhg.2013.12.004","article-title":"Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86","volume":"94","author":"Rehman","year":"2014","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0025","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.c.31412","article-title":"Hennekam RC and group Dsc DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome","volume":"166C","author":"Campeau","year":"2014","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0030","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S1474-4422(13)70265-5","article-title":"The genetic basis of DOORS syndrome: an exome-sequencing study","volume":"13","author":"Campeau","year":"2014","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.seizure.2019.05.010_bib0035","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1038\/ng.3144","article-title":"A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy","volume":"47","author":"Muona","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0040","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1684\/epd.2016.0849","article-title":"Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy","volume":"18","author":"Appavu","year":"2016","journal-title":"Epileptic Disord"},{"key":"10.1016\/j.seizure.2019.05.010_bib0045","first-page":"735","article-title":"Clinical features and gene mutations in epilepsy of infancy with migrating focal seizures","volume":"54","author":"Shang","year":"2016","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.seizure.2019.05.010_bib0050","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/j.ajhg.2010.08.001","article-title":"A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24","volume":"87","author":"Corbett","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0055","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1136\/jmedgenet-2012-101313","article-title":"Tolun A TBC1D24 truncating mutation resulting in severe neurodegeneration","volume":"50","author":"Guven","year":"2013","journal-title":"J Med Genet"},{"key":"10.1016\/j.seizure.2019.05.010_bib0060","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/humu.22318","article-title":"Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy","volume":"34","author":"Milh","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2019.05.010_bib0065","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1002\/humu.22557","article-title":"TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss","volume":"35","author":"Azaiez","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2019.05.010_bib0070","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1002\/humu.22558","article-title":"A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment","volume":"35","author":"Zhang","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.seizure.2019.05.010_bib0075","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0138072","article-title":"Recessive TBC1D24 mutations are frequent in moroccan non-syndromic hearing loss pedigrees","volume":"10","author":"Bakhchane","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.seizure.2019.05.010_bib0080","doi-asserted-by":"crossref","first-page":"3207","DOI":"10.1002\/ajmg.a.37933","article-title":"Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations","volume":"170","author":"Lozano","year":"2016","journal-title":"Am J Med Genet A"},{"issue":"Pt 2","key":"10.1016\/j.seizure.2019.05.010_bib0085","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1093\/brain\/119.2.393","article-title":"Clinical and physiological features of epilepsia partialis continua. Cases ascertained in the UK","volume":"119","author":"Cockerell","year":"1996","journal-title":"Brain"},{"key":"10.1016\/j.seizure.2019.05.010_bib0090","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.seizure.2017.03.003","article-title":"Alternating hemiplegia and epilepsia partialis Continua: a new phenotype for a novel compound TBC1D24 mutation","volume":"47","author":"Ragona","year":"2017","journal-title":"Seizure"},{"key":"10.1016\/j.seizure.2019.05.010_bib0095","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.seizure.2019.05.010_bib0100","doi-asserted-by":"crossref","first-page":"553","DOI":"10.12688\/f1000research.10588.1","article-title":"Case Report: novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability","volume":"6","author":"Banuelos","year":"2017","journal-title":"F1000Res"},{"key":"10.1016\/j.seizure.2019.05.010_bib0105","first-page":"445","article-title":"Clinical features and gene analysis of TBC1D24 gene mutation related early-onset focal myoclonic epilepsy","volume":"98","author":"Leng","year":"2018","journal-title":"Zhonghua Yi Xue Za Zhi"},{"key":"10.1016\/j.seizure.2019.05.010_bib0110","doi-asserted-by":"crossref","first-page":"452","DOI":"10.5334\/tohm.357","article-title":"TBC1D24 mutations in a sibship with multifocal polymyoclonus","volume":"7","author":"Ngoh","year":"2017","journal-title":"Tremor Other Hyperkinet Mov (N Y)"},{"key":"10.1016\/j.seizure.2019.05.010_bib0115","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/j.eplepsyres.2015.01.008","article-title":"Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability","volume":"111","author":"Poulat","year":"2015","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.seizure.2019.05.010_bib0120","first-page":"50","article-title":"Novel compound heterozygous TBC1D24 mutations in a boy with infantile focal myoclonic epilepsy and literature review","volume":"55","author":"Li","year":"2017","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"10.1016\/j.seizure.2019.05.010_bib0125","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1002\/mds.26303","article-title":"A novel homozygous TBC1D24 mutation causing multifocal myoclonus with cerebellar involvement","volume":"30","author":"Doummar","year":"2015","journal-title":"Mov Disord"},{"key":"10.1016\/j.seizure.2019.05.010_bib0130","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/j.eplepsyres.2013.02.005","article-title":"TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation","volume":"105","author":"Afawi","year":"2013","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.seizure.2019.05.010_bib0135","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.yebeh.2017.04.010","article-title":"TBC1D24 gene mutations are associated with high risk of sudden unexpected death","volume":"72","author":"Trivisano","year":"2017","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.seizure.2019.05.010_bib0140","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1002\/ajmg.a.32054","article-title":"DOOR syndrome: clinical report, literature review and discussion of natural history","volume":"143A","author":"James","year":"2007","journal-title":"Am J Med Genet A"}],"container-title":["Seizure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S105913111830699X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S105913111830699X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T01:54:55Z","timestamp":1761011695000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S105913111830699X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":28,"alternative-id":["S105913111830699X"],"URL":"https:\/\/doi.org\/10.1016\/j.seizure.2019.05.010","relation":{},"ISSN":["1059-1311"],"issn-type":[{"value":"1059-1311","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations","name":"articletitle","label":"Article Title"},{"value":"Seizure","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.seizure.2019.05.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 The Authors. Published by Elsevier Ltd on behalf of British Epilepsy Association.","name":"copyright","label":"Copyright"}]}}