Genomic and Personalized Medicine Perspective in Genetic Generalized Epilepsy

Arch Iran Med. 2019 Sep 1;22(9):516-526.

Abstract

The genetic generalized epilepsies (GGEs) are a set of disorders presenting with generalized seizures, in addition to general spike-wave activity. The present study aims to investigate the clinical manifestations and genetic origin of generalized tonicclonic seizures and the subgroups of GGEs, including childhood absence epilepsy (CAE), juvenile absence epilepsy, and juvenile myoclonic epilepsy (JME). Information compiled from genome-wide association studies (GWASs) in the EPICure project revealed associations with many genes. Besides, copy number variant (CNV) discoveries have been the most inspiring turning point of epilepsy genetic research. This phenomenon could give us an idea about microdeletions/microduplications as genetic variants throughout the whole genome. Nowadays, next-generation sequencing (NGS) approaches support neurogeneticists to unravel the predisposed putative variants in GGE to establish a better diagnosis. Consequently, previous experiments supply data for antiepileptic drugs (AEDs) to test susceptible variants, which influence the response to drugs. As a final point, all these data should provide the current GGE patients with better genetic counseling and follow-up services.

Keywords: AED; Antiepileptic drug; CNV; Copy number variant; Epilepsy; GWAS; Genome wide association.

Publication types

  • Systematic Review

MeSH terms

  • Adolescent
  • Adult
  • Anticonvulsants / therapeutic use
  • Child
  • DNA Copy Number Variations*
  • Epilepsy, Generalized / classification
  • Epilepsy, Generalized / drug therapy
  • Epilepsy, Generalized / genetics*
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Precision Medicine*

Substances

  • Anticonvulsants