Quantitative trait locus on distal Chromosome 1 regulates the occurrence of spontaneous Spike Wave Discharges in DBA/2 mice

摘要

PurposeMost common forms of human epilepsy result from a complex combination of polygenetic and environmental factors. Quantitative trait loci (QTLs) mapping is a first step toward the non-biased discovery of epilepsy related candidate genes. QTL studies of susceptibility to induced seizures in mouse strains have consistently converged on a distal region of chromosome 1 as a major phenotypic determinant; however, its influence on spontaneous epilepsy remains unclear. In the present studies we characterized the impact of allelic variations within this QTL, termed Szs1, on the occurrence of spontaneous Spike Wave Discharges (SWDs) characteristic of absence seizure in DBA/2 (D2) mice.