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Title
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Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study
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Author
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Institution/Organisation
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EpiPGx Consortium
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Abstract
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| Aim: Pharmacoresistance is a major burden in epilepsy treatment. We aimed to identify genetic biomarkers in response to specific antiepileptic drugs (AEDs) in genetic generalized epilepsies (GGE). Materials & methods: We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects with GGE - responsive or nonresponsive to lamotrigine, levetiracetam and valproic acid. Results: Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p <10(-5)) but no significant association reflecting its limited power. The suggestive associations highlight candidate genes that are implicated in epileptogenesis and neurodevelopment. Conclusion: This first GWAS of AED response in GGE provides a comprehensive reference of SNP associations for hypothesis-driven candidate gene analyses in upcoming pharmacogenetic studies. |
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Language
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English
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Source (journal)
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Pharmacogenomics
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Publication
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2020
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ISSN
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1462-2416
1744-8042
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DOI
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10.2217/PGS-2019-0179
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Volume/pages
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21
:5
(2020)
, p. 325-335
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ISI
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000539318400004
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Pubmed ID
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32308125
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Full text (Publisher's DOI)
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