Developing a gene panel for pharmacoresistant epilepsy: a review of epilepsy pharmacogenetics.
Astrid J Rodriguez-AcevedoLouisa G GordonNicola WaddellGeorgina HollwayLata VadlamudiPublished in: Pharmacogenomics (2021)
Evaluating genes involved in the pharmacodynamics and pharmacokinetics of epilepsy drugs is critical to better understand pharmacoresistant epilepsy. We reviewed the pharmacogenetics literature on six antiseizure medicines (carbamazepine, perampanel, lamotrigine, levetiracetam, sodium valproate and zonisamide) and compared the genes found with those present on epilepsy gene panels using a functional annotation pathway analysis. Little overlap was found between the two gene lists; pharmacogenetic genes are mainly involved in detoxification processes, while epilepsy panel genes are involved in cell signaling and gene expression. Our work provides support for a specific pharmacoresistant epilepsy gene panel to assist antiseizure medicine selection, enabling personalized approaches to treatment. Future efforts will seek to include this panel in genomic analyses of pharmacoresistant patients, to determine clinical utility and patient treatment responses.
Keyphrases
- genome wide
- genome wide identification
- copy number
- gene expression
- dna methylation
- genome wide analysis
- systematic review
- ejection fraction
- newly diagnosed
- end stage renal disease
- stem cells
- temporal lobe epilepsy
- case report
- bioinformatics analysis
- single cell
- prognostic factors
- mesenchymal stem cells
- peritoneal dialysis
- patient reported outcomes
- rna seq
- combination therapy
- patient reported
- drug induced