{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T02:30:00Z","timestamp":1783132200112,"version":"3.54.6"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,12,3]],"date-time":"2021-12-03T00:00:00Z","timestamp":1638489600000},"content-version":"vor","delay-in-days":2,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the Internal Fund of the pediatric Institute of Guangzhou Women and Children\u2019s Medical Center","award":["YIP-2019-028"],"award-info":[{"award-number":["YIP-2019-028"]}]},{"name":"the Internal Fund of the pediatric Institute of Guangzhou Women and Children\u2019s Medical Center","award":["1600050-04"],"award-info":[{"award-number":["1600050-04"]}]},{"name":"the Science and Technology Program of Guangzhou","award":["202102020748"],"award-info":[{"award-number":["202102020748"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy that can be caused by brain malformations or genetic mutations. Recently, genome-wide association studies have led to the identification of novel mutations associated with LGS. The <jats:italic>TANC2<\/jats:italic> gene, encodes a synaptic scaffolding protein that interacts with other proteins at the postsynaptic density to regulate dendritic spines and excitatory synapse formation. The <jats:italic>TANC2<\/jats:italic> gene mutations were reported in neurodevelopmental disorders and epilepsy but not in LGS ever.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here we describe the case of a boy with LGS who presented with multiple seizure patterns, such as myoclonic, atonic, atypical absence, generalized tonic-clonic, focal seizures, and notable cognitive and motor regression. The seizures were refractory to many antiepileptic drugs. He got seizure-free with ketogenic diet combined with antiepileptic drugs. A de novo nonsense mutation c.4321C\u2009&gt;\u2009T(p.Gln1441Ter) in <jats:italic>TANC2<\/jats:italic> gene was identified by the whole-exome sequencing and confirmed by Sanger sequencing.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We described the first Chinese case with LGS associated to a de novo nonsense mutation c.4321C\u2009&gt;\u2009T(p.Gln1441Ter) in <jats:italic>TANC2<\/jats:italic> gene, which would expand the clinical spectrum related to <jats:italic>TANC2<\/jats:italic> mutations and contribute to better understanding of genotype-phenotype relationship to guide precision medicine.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-021-03021-3","type":"journal-article","created":{"date-parts":[[2021,12,3]],"date-time":"2021-12-03T10:06:29Z","timestamp":1638525989000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Yang","family":"Tian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi","family":"Hou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuying","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haixia","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-2006","authenticated-orcid":false,"given":"Wen-Xiong","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,12,3]]},"reference":[{"issue":"6","key":"3021_CR1","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1046\/j.1528-1157.2001.10401.x","volume":"42","author":"J Engel Jr","year":"2001","unstructured":"Engel J Jr. International league against E. a proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology. 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Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"Suppl 5","key":"3021_CR8","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/j.1528-1167.2011.03177.x","volume":"52","author":"PR Camfield","year":"2011","unstructured":"Camfield PR. Definition and natural history of Lennox-Gastaut syndrome. Epilepsia. 2011;52(Suppl 5):3\u20139.","journal-title":"Epilepsia"},{"issue":"1","key":"3021_CR9","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1016\/S1474-4422(08)70292-8","volume":"8","author":"A Arzimanoglou","year":"2009","unstructured":"Arzimanoglou A, French J, Blume WT, Cross JH, Ernst JP, Feucht M, et al. Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology. Lancet Neurol. 2009;8(1):82\u201393.","journal-title":"Lancet Neurol"},{"issue":"Suppl 1","key":"3021_CR10","first-page":"S3","volume":"13","author":"A Arzimanoglou","year":"2011","unstructured":"Arzimanoglou A, Resnick T. All children who experience epileptic falls do not necessarily have Lennox-Gastaut syndrome... But many do. Epileptic Disord. 2011;13(Suppl 1):S3\u201313.","journal-title":"Epileptic Disord"},{"issue":"4","key":"3021_CR11","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1111\/epi.13709","volume":"58","author":"IE Scheffer","year":"2017","unstructured":"Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):512\u201321.","journal-title":"Epilepsia"},{"issue":"45","key":"3021_CR12","doi-asserted-by":"publisher","first-page":"15102","DOI":"10.1523\/JNEUROSCI.3128-10.2010","volume":"30","author":"S Han","year":"2010","unstructured":"Han S, Nam J, Li Y, Kim S, Cho SH, Cho YS, et al. Regulation of dendritic spines, spatial memory, and embryonic development by the TANC family of PSD-95-interacting proteins. J Neurosci. 2010;30(45):15102\u201312.","journal-title":"J Neurosci"},{"issue":"3","key":"3021_CR13","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1016\/j.celrep.2018.06.071","volume":"24","author":"R Stucchi","year":"2018","unstructured":"Stucchi R, Plucinska G, Hummel JJA, Zahavi EE, Guerra San Juan I, Klykov O, et al. Regulation of KIF1A-driven dense Core vesicle transport: Ca(2+)\/CaM controls DCV binding and Liprin-alpha\/TANC2 recruits DCVs to postsynaptic sites. Cell Rep. 2018;24(3):685\u2013700.","journal-title":"Cell Rep"},{"issue":"1","key":"3021_CR14","doi-asserted-by":"publisher","first-page":"6829","DOI":"10.1038\/s41598-017-05748-5","volume":"7","author":"A Gasparini","year":"2017","unstructured":"Gasparini A, Tosatto SCE, Murgia A, Leonardi E. Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family. Sci Rep. 2017;7(1):6829.","journal-title":"Sci Rep"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-03021-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-021-03021-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-021-03021-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,3]],"date-time":"2021-12-03T10:07:09Z","timestamp":1638526029000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-021-03021-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["3021"],"URL":"https:\/\/doi.org\/10.1186\/s12887-021-03021-3","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12]]},"assertion":[{"value":"8 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 December 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This research was approved by the Ethics Committee of Guangzhou Women and Children\u2019s Medical Center, conforming to the Helsinki Declaration. Informed written consent for clinical and genetic analyses was obtained from the patient\u2019s parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the parents for publication of this case report and any accompanying tables\/images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"546"}}