Evidence for distinct genetic influences on generalized and XXXX .

@entity74 @entity1625 @entity302 @entity3762
PURPOSE: Determining the existence of syndrome-specific genetic factors in @entity302 is essential for phenotype definition in genetic linkage studies, and informs research on basic mechanisms. Analysis of concordance of @entity302 syndromes in families has been used to assess shared versus distinct genetic influences on generalized @entity302 (GE) and @entity1625 ( @entity1625 ). However, it is unclear how the results should be interpreted in relation to specific @entity74 . METHODS: To assess evidence for distinct genetic influences on GE and @entity1625 , we examined concordance of GE and @entity1625 in 63 families containing multiple individuals with @entity3762 , drawn from the Epilepsy Family Study of Columbia University. To control for the number of concordant families expected by chance, we used a permutation test to compare the observed number with the number expected from the distribution of individuals with GE and @entity1625 in the study families. RESULTS: Of the families, 62% were concordant for @entity302 type, and 38% were discordant. In all analyses, the proportion of concordant families was significantly greater than expected. CONCLUSIONS: This suggests that some genetic influences predispose specifically to either GE or @entity1625 . Because of the ascertainment bias resulting from the selection of families containing multiple individuals with @entity302 , we could not test whether there are also shared genetic influences on these two @entity302 subtypes. Population-based studies will be needed to explore these results further.
