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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| Main Authors: | , , |
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| Format: | Online |
| Language: | Portuguese |
| Published: |
Universidade Estadual de Campinas
2019
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| Subjects: | |
| Online Access: | https://econtents.sbu.unicamp.br/eventos/index.php/pibic/article/view/1863 |
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| Summary: | 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. |
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| ISSN: | 2596-1969 |
