{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T04:24:37Z","timestamp":1774326277423,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,1,20]],"date-time":"2021-01-20T00:00:00Z","timestamp":1611100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To identify the causative variants in two unrelated Chinese patients presenting with epilepsy and deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The two patients underwent a thorough examination, including brain MRI, EEG and metabolic studies. Next\u2010generation sequencing (NGS) was performed on genomic DNA samples from the siblings and parents. Sanger sequencing was used to confirm the variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Gene sequencing revealed that they carried two novel compound heterozygous missense variants of the TBC1D24: c.116 C\u00a0&gt;\u00a0T (p.Ala39Val) and c.827\u00a0T\u00a0&gt;\u00a0C (p.Ile276Thr) in patient 1; c.404 C\u00a0&gt;\u00a0T (p.Pro135Leu) and c.679\u00a0T\u00a0&gt;\u00a0C (p.Arg227Trp) in patient 2. Audiologic examination showed bilateral sensorineural hearing loss in both patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We have found novel variants in the TBC1D24 in two Chinese unrelated patients. They result in a rare phenotype, characterized by drug\u2010resistant epilepsy and deafness.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.10070","type":"journal-article","created":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T12:28:24Z","timestamp":1602851304000},"page":"98-105","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel variants in <i>TBC1D24<\/i> associated with epilepsy and deafness: Report of two cases"],"prefix":"10.1002","volume":"81","author":[{"given":"Na","family":"Zhang","sequence":"first","affiliation":[{"name":"Pediatric Department the Affiliated Hospital of Qingdao University Qingdao P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Hou","sequence":"additional","affiliation":[{"name":"Pediatric Department the Qingdao Women &amp; Children Hospital Qingdao P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaochun","family":"Ma","sequence":"additional","affiliation":[{"name":"Pediatric Department the Qingdao Women &amp; Children Hospital Qingdao P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yedan","family":"Liu","sequence":"additional","affiliation":[{"name":"Pediatric Department the Affiliated Hospital of Qingdao University Qingdao P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Wei","sequence":"additional","affiliation":[{"name":"Kangso Medical Inspection Co., Ltd Beijing P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7282-9008","authenticated-orcid":false,"given":"Zongbo","family":"Chen","sequence":"additional","affiliation":[{"name":"Pediatric Department the Affiliated Hospital of Qingdao University Qingdao P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,1,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0849"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002807"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.10588.1"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70265-5"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.08.001"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1316294111"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.020"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejcb.2007.04.007"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61056"},{"key":"e_1_2_12_11_1","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 A.","year":"2017","journal-title":"Tremor Other Hyperkinet Mov (NY)"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2015.01.008"},{"key":"e_1_2_12_13_1","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 F.","year":"2017","journal-title":"Seizure"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.12.004"},{"issue":"2","key":"e_1_2_12_15_1","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s13760-017-0818-3","article-title":"TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy\u201016","volume":"120","author":"Salemi M.","year":"2017","journal-title":"Acta Neurologica Belgica"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2014.12.011"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy445"},{"issue":"9","key":"e_1_2_12_18_1","first-page":"667","article-title":"Clinical phenotypes of TBC1D24 gene related epilepsy","volume":"56","author":"Zhang J.","year":"2018","journal-title":"Zhonghua Er Ke Za Zhi"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10070","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.10070","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10070","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T23:27:47Z","timestamp":1693697267000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,20]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1002\/jdn.10070"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10070","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,20]]},"assertion":[{"value":"2019-12-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}