Testing association of rare genetic variants with resistance to three common antiseizure medications.

Stefan WolkingClaudia MoreauAnne T NiesElke SchaeffelerMark McCormackPauls AuceAndreja AvbersekFelicitas BeckerMartin Krenn Rikke Steensjerre MollerMarina NikanorovaYvonne G WeberSarah WeckhuysenGianpiero L Cavalleri Norman Delanty Chantal DepondtMichael R JohnsonBobby P C KoelemanWolfram S KunzAnthony G MarsonJosemir W SanderGraeme J SillsPasquale StrianoFederico ZaraFritz ZimprichMatthias SchwabRoland Krause Sanjay M SisodiyaPatrick CossetteSimon L GirardHolger Lerchenull null

Published in: Epilepsia (2020)

In our pharmacogenetic study, we identified a slightly increased burden of damaging variants in gene groups related to drug kinetics or targeting in individuals presenting with drug resistance to VPA or LEV. Such variants could thus determine a genetic contribution to drug resistance.

Keyphrases

copy number
genome wide
dna methylation
cancer therapy
case report
emergency department
gene expression
risk factors
genome wide identification