Cortical malformations are associated with a rare polymorphism of cellular prion protein.
case_control · Level III
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Abstract
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 symptomatic epilepsies related to different forms of malformations of cortical development.
Medical subject headings
- Amino Acid Substitution
- Amyloid
- Cerebral Cortex
- Epilepsy
- Polymorphism, Single Nucleotide
- Protein Precursors