Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

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). We conducted a genome-wide association study (GWAS) of 3.3 million autosomal SNPs in 893 European subjects w...

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Veröffentlicht in:Pharmacogenomics 2020-04, Vol.21 (5), p.325-335
Hauptverfasser: Wolking, Stefan, Schulz, Herbert, Nies, Anne T, McCormack, Mark, Schaeffeler, Elke, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Klein, Karl M, Krenn, Martin, Møller, Rikke S, Nikanorova, Marina, Weckhuysen, Sarah, Consortium, EpiPGx, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Johnson, Michael R, Koeleman, Bobby Pc, Kunz, Wolfram S, Marson, Anthony G, Sander, Josemir W, Sills, Graeme J, Striano, Pasquale, Zara, Federico, Zimprich, Fritz, Weber, Yvonne G, Krause, Roland, Sisodiya, Sanjay, Schwab, Matthias, Sander, Thomas, Lerche, Holger
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Sprache:eng
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Zusammenfassung: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). 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. Our GWAS of AED response revealed suggestive evidence for association at 29 genomic loci (p
ISSN:1462-2416
1744-8042
DOI:10.2217/pgs-2019-0179