Identifying SNP targeted pathways in partial epilepsies with genome-wide association study data

Bakir-Gungor B., BAYKAL B., UĞUR İŞERİ S. A., TUNCER KILINÇ F. N., Sezerman O. U.

EPILEPSY RESEARCH, vol.105, no.1-2, pp.92-102, 2013 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 105 Issue: 1-2
  • Publication Date: 2013
  • Doi Number: 10.1016/j.eplepsyres.2013.02.008
  • Journal Name: EPILEPSY RESEARCH
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.92-102
  • Keywords: Genome-wide association studies, Pathways, Partial epilepsy, Focal epilepsy, Epilepsy genetics, Epileptogenesis, FRONTAL-LOBE EPILEPSY, PROTEIN INTERACTION NETWORK, SUSCEPTIBILITY LOCI, MISSENSE MUTATIONS, TENASCIN-R, GENE, FEATURES, EPILEPTOGENESIS, CLASSIFICATION, TRANSCRIPTOME
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

Purpose: In a recent genome-wide association study for partial epilepsies in the European population, a common genetic variation has been reported to affect partial epilepsy only modestly. However, in complex diseases such as partial epilepsy, multiple factors (e.g. single nucleotide polymorphisms, microRNAs, metabolic and epigenetic factors) may target different sets of genes in the same pathway, affecting its function and thus causing the disease development. In this regard, we hypothesize that the pathways are critical for elucidating the mechanisms underlying partial epilepsy.