Analysis of candidate SNPs in patients with genetic generalized epilepsy
Genome-wide association studies (GWAS) and exome sequencing have identified single nucleotide polymorphisms (SNPs) associated with genetic generalized epilepsy (GGE). However, these studies were based on European and Chinese populations, and the SNPs found could not be useful for polygenetic risk as...
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| Format: | Online |
| Language: | Portuguese |
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Universidade Estadual de Campinas
2019
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| Online Access: | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/1863 |
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| author | Kaibara, Felipe Cendes, Iscia Secolin, Rodrigo |
| author_facet | Kaibara, Felipe Cendes, Iscia Secolin, Rodrigo |
| author_sort | Kaibara, Felipe |
| collection | Portal de Eventos Científicos da UNICAMP |
| container_reference | Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 27 (2019): Congresso de Iniciação Científica UNICAMP; 1-1 |
| description | Genome-wide association studies (GWAS) and exome sequencing have identified single nucleotide polymorphisms (SNPs) associated with genetic generalized epilepsy (GGE). However, these studies were based on European and Chinese populations, and the SNPs found could not be useful for polygenetic risk assessment in underrepresented populations as admixed Americans. Therefore, the purpose of this study is to evaluate whether these candidate SNPs for susceptibility to GGE are also found to be associated with the phenotype in a Brazilian GGE cohort. |
| first_indexed | 2025-10-08T13:55:34Z |
| format | Online |
| id | ojs-article-1863 |
| institution | Universidade Estadual de Campinas |
| issn | 2596-1969 |
| language | por |
| last_indexed | 2025-10-08T13:55:34Z |
| publishDate | 2019 |
| publisher | Universidade Estadual de Campinas |
| record_format | ojs |
| spelling | ojs-article-18632025-09-26T14:39:16Z Analysis of candidate SNPs in patients with genetic generalized epilepsy Kaibara, Felipe Cendes, Iscia Secolin, Rodrigo Neurology Genetic generalized epilepsy Association study Genome-wide association studies (GWAS) and exome sequencing have identified single nucleotide polymorphisms (SNPs) associated with genetic generalized epilepsy (GGE). However, these studies were based on European and Chinese populations, and the SNPs found could not be useful for polygenetic risk assessment in underrepresented populations as admixed Americans. Therefore, the purpose of this study is to evaluate whether these candidate SNPs for susceptibility to GGE are also found to be associated with the phenotype in a Brazilian GGE cohort. Universidade Estadual de Campinas 2019-11-30 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Artigo de convidado application/pdf https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/1863 10.20396/revpibic2720191863 Revista dos Trabalhos de Iniciação Científica da UNICAMP; n. 27 (2019): Congresso de Iniciação Científica UNICAMP; 1-1 2596-1969 por https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/1863/1922 Copyright (c) 2019 Revista dos Trabalhos de Iniciação Científica da UNICAMP http://creativecommons.org/licenses/by/4.0 |
| spellingShingle | Kaibara, Felipe Cendes, Iscia Secolin, Rodrigo Neurology Genetic generalized epilepsy Association study Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title | Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title_full | Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title_fullStr | Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title_full_unstemmed | Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title_short | Analysis of candidate SNPs in patients with genetic generalized epilepsy |
| title_sort | analysis of candidate snps in patients with genetic generalized epilepsy |
| topic | Neurology Genetic generalized epilepsy Association study |
| url | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/1863 |
| work_keys_str_mv | AT kaibarafelipe analysisofcandidatesnpsinpatientswithgeneticgeneralizedepilepsy AT cendesiscia analysisofcandidatesnpsinpatientswithgeneticgeneralizedepilepsy AT secolinrodrigo analysisofcandidatesnpsinpatientswithgeneticgeneralizedepilepsy |
