Mapping of genes predisposing to idiopathic generalized epilepsy

摘要: Idiopathic generalized epilepsy (IGE) is characterized by recurring seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Twin and family studies suggest that genetic factors play a key part IGE. A multilocus model appears to best fit observed inheritance patterns. Mapping IGE-related genes has been previously attempted using parametric methods, with conflicting results. In particular, recent evidence argues both for against chromosome 6p locus (EJM1) juvenile myoclonic epilepsy, subtype We have approached problem mapping IGE loci non-parametric which recently successful other complex diseases. No linkage was obtained. However, we obtained involvement at 8q24, close marker D8S256. The same 8q24 region implicated families benign neonatal familial convulsions (BNFC), syndrome inherited as simple dominant mendelian trait. There an apparent conserved syntenic group human mouse 15, harbors stargazer (stg) locus. Homozygous mutant mice stg show form resembles epilepsy. Our findings may implications on predisposing