{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T09:55:24Z","timestamp":1788602124555,"version":"build-2803163510"},"reference-count":49,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T00:00:00Z","timestamp":1710547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aims to comprehensively analyze the clinical characteristics and identify the differentially expressed genes associated with drug\u2010resistant epilepsy (DRE) in patients with focal cortical dysplasia (FCD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A retrospective investigation was conducted from July 2019 to June 2022, involving 40 pediatric cases of DRE linked to FCD. Subsequent follow\u2010ups were done to assess post\u2010surgical outcomes. Transcriptomic sequencing and quantitative reverse transcription polymerase chain reaction (qRT\u2010PCR) were used to examine differential gene expression between the FCD and control groups.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among the 40 patients included in the study, focal to bilateral tonic\u2013clonic seizures (13\/40, 32.50%) and epileptic spasms (9\/40, 22.50%) were the predominant seizure types. Magnetic resonance imaging (MRI) showed frequent involvement of the frontal (22\/40, 55%) and temporal lobes (12\/40, 30%). In cases with negative MRI results (13\/13, 100%), positron emission tomography\/computed tomography (PET\u2010CT) scans revealed hypometabolic lesions. Fused MRI\/PET\u2010CT images demonstrated lesion reduction in 40.74% (11\/27) of cases compared with PET\u2010CT alone, while 59.26% (16\/27) yielded results consistent with PET\u2010CT findings. FCD type II was identified in 26 cases, and FCD type I in 13 cases. At the last follow\u2010up, 38 patients were prescribed an average of 1.27\u2009\u00b1\u20091.05 anti\u2010seizure medications (ASMs), with two patients discontinuing treatment. After a postoperative follow\u2010up period of 23.50\u2009months, 75% (30\/40) of patients achieved Engel class I outcome. Transcriptomic sequencing and qRT\u2010PCR analysis identified several genes primarily associated with cilia, including\n                      <jats:italic>CFAP47<\/jats:italic>\n                      ,\n                      <jats:italic>CFAP126<\/jats:italic>\n                      ,\n                      <jats:italic>JHY<\/jats:italic>\n                      ,\n                      <jats:italic>RSPH4A<\/jats:italic>\n                      , and\n                      <jats:italic>SPAG1<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      This study highlights focal to bilateral tonic\u2013clonic seizures as the most common seizure type in patients with DRE due to FCD. Surgical intervention primarily targeted lesions in the frontal and temporal lobes. Patients with FCD\u2010related DRE showed a promising prognosis for seizure control post\u2010surgery. The identified genes, including\n                      <jats:italic>CFAP47<\/jats:italic>\n                      ,\n                      <jats:italic>CFAP126<\/jats:italic>\n                      ,\n                      <jats:italic>JHY<\/jats:italic>\n                      ,\n                      <jats:italic>RSPH4A<\/jats:italic>\n                      , and\n                      <jats:italic>SPAG1<\/jats:italic>\n                      , could serve as potential biomarkers for FCD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Plain Language Summary<\/jats:title>\n                    <jats:p>\n                      This study aimed to comprehensively evaluate the clinical data of individuals affected by focal cortical dysplasia and analyze transcriptomic data from brain tissues. We found that focal to bilateral tonic\u2013clonic seizures were the most prevalent seizure type in patients with drug\u2010resistant epilepsy. In cases treated surgically, the frontal and temporal lobes were the primary sites of the lesions. Moreover, patients with focal cortical dysplasia\u2010induced drug\u2010resistant epilepsy exhibited a favorable prognosis for seizure control after surgery.\n                      <jats:italic>CFAP47<\/jats:italic>\n                      ,\n                      <jats:italic>CFAP126<\/jats:italic>\n                      ,\n                      <jats:italic>JHY<\/jats:italic>\n                      ,\n                      <jats:italic>RSPH4A<\/jats:italic>\n                      , and\n                      <jats:italic>SPAG1<\/jats:italic>\n                      have emerged as potential pathogenic genes for the development of focal cortical dysplasia.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi4.12928","type":"journal-article","created":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T09:49:45Z","timestamp":1710582585000},"page":"981-995","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Analysis of clinical characteristics and histopathological transcription in 40 patients afflicted by epilepsy stemming from focal cortical dysplasia"],"prefix":"10.1002","volume":"9","author":[{"given":"Ke","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Academy of Medical Sciences Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"He","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Academy of Medical Sciences Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jixue","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianming","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiao","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongming","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengchun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Gan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinjun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurosurgery The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6171-1891","authenticated-orcid":false,"given":"Yan","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics The Third Affiliated Hospital of Zhengzhou University  Zhengzhou China"},{"name":"Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center The Third Affiliated Hospital and Institute of Neuroscience  Zhengzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,3,16]]},"reference":[{"key":"e_1_2_15_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16899"},{"key":"e_1_2_15_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab479"},{"key":"e_1_2_15_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000201033"},{"key":"e_1_2_15_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac275"},{"key":"e_1_2_15_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000200345"},{"key":"e_1_2_15_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30220-9"},{"key":"e_1_2_15_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-022-01276-9"},{"key":"e_1_2_15_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.13205"},{"key":"e_1_2_15_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awac117"},{"key":"e_1_2_15_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24368"},{"key":"e_1_2_15_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12736"},{"key":"e_1_2_15_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02777.x"},{"key":"e_1_2_15_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.14481"},{"key":"e_1_2_15_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-021-02865-x"},{"key":"e_1_2_15_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2008.07.013"},{"key":"e_1_2_15_17_1","first-page":"724","article-title":"Focal cortical dysplasias: MR imaging, histopathologic, and clinical correlations in surgically treated patients with epilepsy","volume":"24","author":"Colombo N","year":"2003","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_15_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000005820"},{"key":"e_1_2_15_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02890.x"},{"key":"e_1_2_15_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1703784"},{"key":"e_1_2_15_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2018.05.006"},{"key":"e_1_2_15_22_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2009.0279"},{"key":"e_1_2_15_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13615"},{"key":"e_1_2_15_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-64142-7.00039-4"},{"key":"e_1_2_15_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/epi4.12587"},{"key":"e_1_2_15_26_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2019.1028"},{"key":"e_1_2_15_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-020-04851-9"},{"key":"e_1_2_15_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2005.07.013"},{"issue":"2","key":"e_1_2_15_29_1","first-page":"S67","article-title":"Neuroimaging of focal cortical dysplasia: neuropathological correlations","volume":"5","author":"Colombo N","year":"2003","journal-title":"Epileptic Disord"},{"key":"e_1_2_15_30_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A3081"},{"key":"e_1_2_15_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-012-1049-1"},{"key":"e_1_2_15_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21398"},{"key":"e_1_2_15_33_1","first-page":"186","article-title":"Postoperative image reading for children with focal cortical dysplasia misdiagnosed or missed by magnetic resonance imaging: a retrospective analysis of 23 cases. Journal of international","volume":"47","author":"Lin L","year":"2020","journal-title":"Neurol Neurosurg"},{"key":"e_1_2_15_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03363.x"},{"key":"e_1_2_15_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003042"},{"key":"e_1_2_15_36_1","doi-asserted-by":"publisher","DOI":"10.3171\/2012.1.JNS111105"},{"key":"e_1_2_15_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2007.116038"},{"key":"e_1_2_15_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2021.02.006"},{"key":"e_1_2_15_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.07.025"},{"key":"e_1_2_15_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.expneurol.2016.05.015"},{"key":"e_1_2_15_41_1","doi-asserted-by":"publisher","DOI":"10.1042\/BCJ20170453"},{"key":"e_1_2_15_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8857"},{"key":"e_1_2_15_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3451"},{"key":"e_1_2_15_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.10.027"},{"key":"e_1_2_15_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2012.09.019"},{"key":"e_1_2_15_46_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.630161"},{"key":"e_1_2_15_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.06.042"},{"key":"e_1_2_15_48_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells11213384"},{"key":"e_1_2_15_49_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn2040"},{"key":"e_1_2_15_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14934"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12928","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,3]],"date-time":"2024-06-03T08:10:14Z","timestamp":1717402214000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12928"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,3,16]]},"references-count":49,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/epi4.12928"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12928","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,3,16]]},"assertion":[{"value":"2023-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-06","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-16","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}