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Published January 1, 2012 | Version v1
Journal article Open

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

Creators

  • 1. Univ Cologne, Cologne Ctr Genom, D-50931 Cologne, Germany
  • 2. Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands
  • 3. Univ Genoa, G Gaslini Inst, Muscular & Neurodegenerat Dis Unit, Genoa, Italy
  • 4. Hosp San Donato, Neurol Unit, Epilepsy Ctr, Arezzo, Italy
  • 5. Univ Bologna, Dept Neurol Sci, Bologna, Italy
  • 6. Univ Naples Federico II, Epilepsy Ctr, Naples, Italy
  • 7. Univ Roma La Sapienza, Dept Neurol Sci, Policlin Umberto I, I-00185 Rome, Italy
  • 8. Osped C Poma, Dept Child Neuropsychiat, Mantua, Italy
  • 9. SEIN Epilepsy Inst Netherlands, Hoofddorp, Netherlands
  • 10. Humboldt Univ, Dept Neurol, Charite Univ Med, Campus Virchow Clin, D-10099 Berlin, Germany
  • 11. Univ Tubingen, Dept Neurol & Epileptol, Hertie Inst Clin Brain Res, Tubingen, Germany
  • 12. Univ Clin Bonn, Dept Epileptol, Bonn, Germany

Description

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.

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