Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results

摘要: We used POINTER to perform segregation analysis of cryptogenic epilepsy in 1,557 three-generation families (probands and their parents, siblings, offspring) ascertained from voluntary organizations. Analysis the full data set indicated that were most consistent with an autosomal dominant (AD) model 61% penetrance susceptibility gene. However, subsequent analyses revealed patterns familial aggregation differed markedly between siblings offspring probands. Risks recessive (AR) inconsistent AD model, whereas risks AR more model. As a further test validity we sequential ascertainment extend family history information subset judged likely carry putative gene because they contained at least three affected individuals. Prevalence idiopathic/cryptogenic was only 3.7% newly identified relatives expected have 50% probability carrying under Approximately 30% (i.e., x 61%) be resulting analysis. These results suggest distribution is any conventional genetic The differences risk are intriguing should investigated further.