Article
Cortical malformations are associated with a rare polymorphism of cellular prion protein.
Neurology - 10 Aug 2004
Walz R, Castro R M R P S, Landemberger M C, Velasco T R, Terra-Bustamante V C, Bastos A C, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V, Santos A C, Machado H R, Carlotti C G, Brentani R R, Martins V R, Sakamoto A C
Abstract excerpt
Studies in animals lacking the cellular prion protein (PrP(c)) 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...
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