Cortical malformations are associated with a rare polymorphism of cellular prion protein
Copyright policy )Cortical malformations are associated with a rare polymorphism of cellular prion protein
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.
- UNIVERSIDADE DE SAO PAULO Brazil
- Governador Celso Ramos Hospital Brazil
- Universidade de São Paulo Brazil
Adult, Cerebral Cortex, Amyloid, Epilepsy, Adolescent, Genotype, DNA Mutational Analysis, Apoptosis, Congenital Abnormalities, Europe, Amino Acid Substitution, Gene Frequency, Cell Movement, Ethnicity, Humans, Female, Child, Alleles, Brazil, Cell Division
Adult, Cerebral Cortex, Amyloid, Epilepsy, Adolescent, Genotype, DNA Mutational Analysis, Apoptosis, Congenital Abnormalities, Europe, Amino Acid Substitution, Gene Frequency, Cell Movement, Ethnicity, Humans, Female, Child, Alleles, Brazil, Cell Division
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