Samuel F Berkovic

1 month ago | onlinelibrary.wiley.com | Colin Ellis |Ruth Ottman |Michael Epstein |Samuel F Berkovic

We calculated polygenic risk scores for genetic generalized epilepsy (GGE_PRS) and for focal epilepsy (Focal_PRS) in individuals from 257 multiplex epilepsy families. Families with both generalized and focal epilepsies were partly explained by the chance co-occurrence of distinct genetic risk alleles. Phenotypic heterogeneity within families was partly explained by the relative burden of risk alleles for genetic generalized epilepsy.