1. Cortical malformations are associated with a rare polymorphism of cellular prion protein.
- Author
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Walz R, Castro RM, Landemberger MC, Velasco TR, Terra-Bustamante VC, Bastos AC, Bianchin M, Wichert-Ana L, Araújo D, Alexandre V Jr, Santos AC, Machado HR, Carlotti CG Jr, Brentani RR, Martins VR, and Sakamoto AC
- Subjects
- Adolescent, Adult, Alleles, Apoptosis, Brazil epidemiology, Cell Division, Cell Movement, Cerebral Cortex pathology, Child, Congenital Abnormalities epidemiology, Congenital Abnormalities genetics, Congenital Abnormalities pathology, DNA Mutational Analysis, Epilepsy epidemiology, Epilepsy pathology, Ethnicity genetics, Europe epidemiology, Female, Gene Frequency, Genotype, Humans, Male, Prion Proteins, Prions, Amino Acid Substitution, Amyloid genetics, Cerebral Cortex abnormalities, Epilepsy genetics, Polymorphism, Single Nucleotide, Protein Precursors genetics
- 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.
- Published
- 2004
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