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 (Journal Indexed in SCI) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 53 Issue: 2
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1528-1167.2011.03379.x
  • Title of Journal : EPILEPSIA
  • 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


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.