{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T20:08:04Z","timestamp":1776283684910,"version":"3.50.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Epileptologica"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Temporal lobe epilepsy is the most common type of focal epilepsy, but hereditary factors are usually overlooked. Reelin (<jats:italic>RELN<\/jats:italic>) is considered to be the second most common pathogenic gene implicated in autosomal dominant lateral temporal epilepsy (ADLTE). However, this mutation is not frequently discovered in the Chinese population. Additionally, there are few clinical studies regarding the connection between <jats:italic>RELN<\/jats:italic> and glioma.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>The healthcare records of an 8-year-old child who experienced generalized tonic-clonic seizures (GTCS) during sleep for 7 years were retrospectively analyzed. In addition to experiencing his first seizure at the age of one, his mother also suffered from\u00a0GTCS during her pregnancy, and a glioma was discovered. An investigation involving gene sequencing was conducted on the proband and his parents. He was diagnosed with ADLTE\u00a0once a missense mutation in <jats:italic>RELN<\/jats:italic> (c.1799 C\u2009&gt;\u2009T) was identified as\u00a0the causal factor. The mutation was inherited from his mother. He was taking levetiracetam (500 mg twice a day) to avoid seizures, but his mother died of status epilepticus caused by glioma recurrence two years earlier.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Genetic issues should be given more consideration in cases of temporal lobe epilepsy. If the source of the seizures is determined to be inherited, anti-seizure medications should be used for prolonged periods. Furthermore, more research is required to determine whether mutations in <jats:italic>RELN<\/jats:italic> are related to the occurrence and progression of gliomas.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s42494-024-00179-y","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T01:02:09Z","timestamp":1725930129000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of autosomal dominant lateral temporal epilepsy caused by a novel mutation in RELN in China: a case report"],"prefix":"10.1186","volume":"6","author":[{"given":"Yan","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanmei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenqiang","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyan","family":"Gou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"179_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.seizure.2017.06.011","volume":"50","author":"MS Vari","year":"2017","unstructured":"Vari MS, Traverso M, Bellini T, Madia F, Pinto F, Minetti C, et al. Denovo 12q22.q23.3 duplication associated with temporal lobe epilepsy. Seizure. 2017;50:80\u20132.","journal-title":"Seizure"},{"issue":"July 1895","key":"179_CR2","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.seizure.2017.11.010","volume":"54","author":"M Eadie","year":"2018","unstructured":"Eadie M. Familial temporal lobe epilepsy in the 19th century. Seizure. 2018;54:7\u201310.\u00a0","journal-title":"Seizure"},{"key":"179_CR3","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1002\/ana.410400214","volume":"40","author":"SF Berkovic","year":"1996","unstructured":"Berkovic SF, Mcintosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Familial temporal lobe epilepsy: a common disorder identified in twins. 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Nat Genet. 2013;45(5):552\u20135.","journal-title":"Nat Genet"},{"key":"179_CR6","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1111\/j.1528-1167.2009.02122.x","volume":"50","author":"R Michelucci","year":"2009","unstructured":"Michelucci R, Pasini E, Nobile C. Lateral temporal lobe epilepsies: Clinical and genetic features. Epilepsia. 2009;50:52\u20134.","journal-title":"Epilepsia"},{"key":"179_CR7","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.yebeh.2016.12.003","volume":"68","author":"R Michelucci","year":"2017","unstructured":"Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, et al. The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. Epilepsy Behav. 2017;68:103\u20137.","journal-title":"Epilepsy Behav [Internet]"},{"issue":"4","key":"179_CR8","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1002\/humu.20925","volume":"30","author":"C Nobile","year":"2009","unstructured":"Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SCE, Striano P. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum Mutat. 2009;30(4):530\u20136.","journal-title":"Hum Mutat"},{"issue":"6","key":"179_CR9","doi-asserted-by":"publisher","first-page":"992","DOI":"10.1016\/j.ajhg.2015.04.020","volume":"96","author":"E Dazzo","year":"2015","unstructured":"Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, et al. Heterozygous reelin mutations cause autosomal-Dominant lateral temporal Epilepsy. 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Brain Pathol. 2018;28(5):695\u2013709.","journal-title":"Brain Pathol"}],"container-title":["Acta Epileptologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s42494-024-00179-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s42494-024-00179-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s42494-024-00179-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T01:03:40Z","timestamp":1725930220000},"score":1,"resource":{"primary":{"URL":"https:\/\/aepi.biomedcentral.com\/articles\/10.1186\/s42494-024-00179-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,10]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["179"],"URL":"https:\/\/doi.org\/10.1186\/s42494-024-00179-y","relation":{},"ISSN":["2096-9384","2524-4434"],"issn-type":[{"value":"2096-9384","type":"print"},{"value":"2524-4434","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,10]]},"assertion":[{"value":"12 March 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 September 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was approved by the Medical Ethics Committee of the Second Affiliated Hospital of Harbin Medical University (YJSKY2022-449) and informed consent was obtained from the patient's guardians.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication was obtained from the patients or their legal guardians before any study-related procedures were performed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflict of interest in this manuscript.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"31"}}