Palavras-chave
Genetic generalized epilepsy
Association study
Como Citar
Resumo
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.
Referências
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, Van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676-85.
Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, et al. Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. The American Journal of Human Genetics. 2017;100(4):1-15.
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