{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T09:24:52Z","timestamp":1782379492990,"version":"3.54.5"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T00:00:00Z","timestamp":1739318400000},"content-version":"vor","delay-in-days":42,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004000","name":"Guangzhou Science and Technology Program key projects","doi-asserted-by":"publisher","award":["202102080024"],"award-info":[{"award-number":["202102080024"]}],"id":[{"id":"10.13039\/501100004000","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Genetic factors are estimated to contribute to 80% of people with epilepsy. However, only four genes were reported to be associated with temporal lobe epilepsy (TLE). This study is aimed at investigating the association between <jats:italic>ACTB<\/jats:italic> and TLE. Trio\u2010based exome sequencing was performed in a patient, and a de novo <jats:italic>ACTB<\/jats:italic> variant was identified. The patient presented with TLE featuring by age of onset in juvenile, seizure\u2010free status in adulthood, complications of memory decline and irritability, epileptic discharges in the bilateral temporal lobes, and bilateral hippocampal sclerosis. The pathogenicity of the identified <jats:italic>ACTB<\/jats:italic> variant was supposed by multiple pieces of evidence, including the missense tolerance ratio of 0%, high conservation of the affected residue, predicted to be \u201cdamaging\u201d or \u201cconserved\u201d by 17 in silico tools, and classification of likely pathogenic variant by the American College of Medical Genetics and Genomics (ACMG) guidelines. Protein modeling indicated the alteration of protein structure and stability caused by the identified variant. The spatiotemporal expression of <jats:italic>ACTB<\/jats:italic> is consistent with the phenotypic features of this patient. This study suggested that <jats:italic>ACTB<\/jats:italic> is a novel candidate causative gene of TLE. The correlation between phenotypes and spatial\u2013temporal expression provides a novel perspective for further exploration of the pathogenesis and prognosis of the disease.<\/jats:p>","DOI":"10.1155\/humu\/9951922","type":"journal-article","created":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T13:34:22Z","timestamp":1739367262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["De Novo <i>ACTB<\/i> Variant Associated With Juvenile\u2010Onset Temporal Lobe Epilepsy With Favorable Outcomes"],"prefix":"10.1155","volume":"2025","author":[{"given":"Hong-Jun","family":"Yan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6848-2021","authenticated-orcid":false,"given":"Peng-Yu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7261-3107","authenticated-orcid":false,"given":"Wen-Hui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Jie","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Cheng","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hua","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7184-1267","authenticated-orcid":false,"given":"Sheng","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,2,12]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-823493-8.00021-3"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.11817\/j.issn.1672-7347.2021.200770"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.10.008"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000241"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22157836"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2373"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(98)70255-6"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.95"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10319"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-06713-0"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.825390"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32916"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2022.107036"},{"key":"e_1_2_12_14_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.1081097"},{"key":"e_1_2_12_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_12_16_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.092619.109"},{"key":"e_1_2_12_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"e_1_2_12_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btt182"},{"key":"e_1_2_12_19_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0046688"},{"key":"e_1_2_12_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00835-9"},{"key":"e_1_2_12_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu733"},{"key":"e_1_2_12_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3703"},{"key":"e_1_2_12_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22225"},{"key":"e_1_2_12_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3477"},{"key":"e_1_2_12_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep10576"},{"key":"e_1_2_12_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3196"},{"key":"e_1_2_12_27_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1001025"},{"key":"e_1_2_12_28_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.097857.109"},{"key":"e_1_2_12_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/139.2.993"},{"key":"e_1_2_12_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.016"},{"key":"e_1_2_12_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky678"},{"key":"e_1_2_12_32_2","doi-asserted-by":"publisher","DOI":"10.1002\/pro.3746"},{"key":"e_1_2_12_33_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2024.10.007"},{"key":"e_1_2_12_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2024.11.010"},{"key":"e_1_2_12_36_2","doi-asserted-by":"publisher","DOI":"10.1186\/s42494-024-00177-0"},{"key":"e_1_2_12_37_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1000"},{"key":"e_1_2_12_38_2","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2023.1290919"},{"key":"e_1_2_12_39_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.226589.117"},{"key":"e_1_2_12_40_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2013.10.002"},{"key":"e_1_2_12_41_2","doi-asserted-by":"publisher","DOI":"10.3390\/cells10071795"},{"key":"e_1_2_12_42_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2015.08.003"},{"key":"e_1_2_12_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.022"},{"key":"e_1_2_12_44_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0708667105"},{"key":"e_1_2_12_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.111900"},{"key":"e_1_2_12_46_2","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1255"},{"key":"e_1_2_12_47_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1993.tb02586.x"},{"key":"e_1_2_12_48_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.2001.31400.x"},{"key":"e_1_2_12_49_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2023.09.021"},{"key":"e_1_2_12_50_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/humu\/9951922","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,12]],"date-time":"2025-02-12T22:14:55Z","timestamp":1739398495000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/humu\/9951922"}},"subtitle":[],"editor":[{"given":"Meng-Che","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":50,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/humu\/9951922"],"URL":"https:\/\/doi.org\/10.1155\/humu\/9951922","archive":["Portico"],"relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-04-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9951922"}}