{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T04:16:25Z","timestamp":1780978585216,"version":"3.54.1"},"reference-count":46,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T00:00:00Z","timestamp":1717027200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["100050\/2023-9"],"award-info":[{"award-number":["100050\/2023-9"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council for Scientific and Technological Development","doi-asserted-by":"publisher","award":["88887464813\/2019-00"],"award-info":[{"award-number":["88887464813\/2019-00"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Coordination of Superior Level Staff Improvement","award":["100050\/2023-9"],"award-info":[{"award-number":["100050\/2023-9"]}]},{"name":"Coordination of Superior Level Staff Improvement","award":["88887464813\/2019-00"],"award-info":[{"award-number":["88887464813\/2019-00"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The drug-resistant temporal lobe epilepsy (TLE) has recently been associated with single nucleotide variants (SNVs) in microRNA(miR)-146a (MIR-146A) (rs2910164) and Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) (rs2298771 and rs3812718) genes. Moreover, no studies have shown an association between these SNVs and susceptibility to drug-resistant and drug-responsive TLE in Brazil. Thus, deoxyribonucleic acid (DNA) samples from 120 patients with TLE (55 drug-responsive and 65 drug-resistant) were evaluated by real-time polymerase chain reaction (RT-PCR). A total of 1171 healthy blood donor individuals from the Online Archive of Brazilian Mutations (ABraOM, from Portuguese Arquivo Brasileiro On-line de Muta\u00e7\u00f5es), a repository containing genomic variants of the Brazilian population, were added as a control population for the studied SNVs. MIR-146A and SCN1A relative expression was performed by quantitative RT-PCR (qRT-PCR). The statistical analysis protocol was performed using an alpha error of 0.05. TLE patient samples and ABraOM control samples were in Hardy\u2013Weinberg equilibrium for all studied SNVs. For rs2910164, the frequencies of the homozygous genotype (CC) (15.00% vs. 9.65%) and C allele (37.80% vs. 29.97%) were superior in patients with TLE compared to controls with a higher risk for TLE disease [odds ratio (OR) = 1.89 (95% confidence interval (95%CI) = 1.06\u20133.37); OR = 1.38 (95%CI = 1.04\u20131.82), respectively]. Drug-responsive patients also presented higher frequencies of the CC genotype [21.81% vs. 9.65%; OR = 2.58 (95%CI = 1.25\u20135.30)] and C allele [39.09% vs. 29.97%; OR = 1.50 (95%CI = 1.01\u20132.22)] compared to controls. For rs2298771, the frequency of the heterozygous genotype (AG) (51.67% vs. 40.40%) was superior in patients with TLE compared to controls with a higher risk for TLE disease [OR = 2.42 (95%CI = 1.08\u20135.41)]. Drug-resistant patients presented a higher AG frequency [56.92% vs. 40.40%; OR = 3.36 (95%CI = 1.04\u201317.30)] compared to the control group. For rs3812718, the prevalence of genotypes and alleles were similar in both studied groups. The MIR-146A relative expression level was lower in drug-resistant compared to drug-responsive patients for GC (1.6 vs. 0.1, p-value = 0.049) and CC (1.8 vs. 0.6, p-value = 0.039). Also, the SCN1A relative expression levels in samples from TLE patients were significantly higher in AG [2.09 vs. 1.10, p-value = 0.038] and GG (3.19 vs. 1.10, p-value &lt; 0.001) compared to the AA genotype. In conclusion, the rs2910164-CC and rs2298771-AG genotypes are exerting significant risk influence, respectively, on responsive disease and resistant disease, probably due to an upregulated nuclear factor kappa B (NF-kB) and SCN1A loss of function.<\/jats:p>","DOI":"10.3390\/ijms25116005","type":"journal-article","created":{"date-parts":[[2024,5,30]],"date-time":"2024-05-30T10:42:34Z","timestamp":1717065754000},"page":"6005","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Single-Base Gene Variants in MIR-146A and SCN1A Genes Related to the Epileptogenic Process in Drug-Responsive and Drug-Resistant Temporal Lobe Epilepsy\u2014A Preliminary Study in a Brazilian Cohort Sample"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0244-4011","authenticated-orcid":false,"given":"Renata Parissi","family":"Buainain","sequence":"first","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3969-5386","authenticated-orcid":false,"given":"Andr\u00e9 Rodrigues","family":"Sodr\u00e9","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3733-6734","authenticated-orcid":false,"given":"J\u00e9ssica Silva","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6828-3156","authenticated-orcid":false,"given":"Karen Antonia Girotto","family":"Takazaki","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8648-6846","authenticated-orcid":false,"given":"Luciano de Souza","family":"Queiroz","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medical Science, University of Campinas, Campinas 13083-970, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos Tadeu Parisi","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"S\u00e3o Francisco University Hospital, S\u00e3o Francisco University, Bragan\u00e7a Paulista 20210-030, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9059-4978","authenticated-orcid":false,"given":"Paulo Henrique Pires","family":"de Aguiar","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Laboratory of Molecular Biology and Genetics, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, Brazil"},{"name":"Department of Neurosurgery, Hospital Santa Paula, S\u00e3o Paulo 04556-100, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4955-4234","authenticated-orcid":false,"given":"Fernando Augusto Lima","family":"Marson","sequence":"additional","affiliation":[{"name":"Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, S\u00e3o Francisco University, Bragan\u00e7a Paulista 12916-900, SP, 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