Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

LEU C., de Kovel C. G. F., ZARA F., STRIANO P., PEZZELLA M., ROBBIANO A., ...More

EPILEPSIA, vol.53, no.2, pp.308-318, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 2
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1528-1167.2011.03379.x
  • Journal Name: EPILEPSIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.308-318
  • Keywords: Genetic generalized epilepsy, Complex inheritance, Absence seizure, Myoclonic seizure, Linkage analysis, JUVENILE MYOCLONIC EPILEPSY, CHILDHOOD ABSENCE EPILEPSY, COMPLEX TRAITS, I ERROR, SEIZURES, HETEROGENEITY, ASSOCIATION, FAMILIES, CHROMOSOME-6, ARCHITECTURE
  • Istanbul University Affiliated: Yes


Purpose: Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% with heritability estimates of 80%. A considerable proportion of families with siblings affected by GGEs presumably display an oligogenic inheritance. The present genome-wide linkage meta-analysis aimed to map: (1) susceptibility loci shared by a broad spectrum of GGEs, and (2) seizure typerelated genetic factors preferentially predisposing to either typical absence or myoclonic seizures, respectively.