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., ...Daha Fazla

EPILEPSIA, cilt.53, sa.2, ss.308-318, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Konu: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1111/j.1528-1167.2011.03379.x
  • Dergi Adı: EPILEPSIA
  • Sayfa Sayıları: ss.308-318

Özet

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.