皮质畸形与1种罕见的细胞朊病毒蛋白多态性相关

摘要

cqvip:Studies in animals lacking the cellular prion protein (PrPc) gene (Prnp) showed higher neuronal excitability in vitro and increased sensitivity to seizures in vivo. The authors previously reported a rare polymorphism at codon 171 (Asn→ Ser) of human Prnp to be associated with mesial temporal lobe epilepsy related to hippocampal sclerosis. They demonstrated that the same variant allele is also associated with symptomatic epilepsies related to different forms of malformations of cortical development.