NR ARUH
AU Walz,R.; Castro,R.M.R.P.S.; Landemberger,M.C.; Velasco,T.R.; Terra-Bustamante,V.C.; Bastos,A.C.; Bianchin,M.M.; Wichert-Ana,L.; Araujo,D.; Alexandre,V.Jr.; Santos,A.C.; Machado,H.R.; Carlotti,C.G.Jr.; Brentani,R.R.; Martins,V.R.; Sakamoto,A.C.
TI Cortical malformations are associated with a rare polymorphism of cellular prion protein
QU Neurology 2004 Aug 10; 63(3): 557-60
PT journal article
AB 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.
MH Abnormalities/epidemiology/genetics/pathology; Adolescent; Adult; Alleles; *Amino Acid Substitution; Amyloid/*genetics; Apoptosis; Brazil/epidemiology; Cell Division; Cell Movement; Cerebral Cortex/*abnormalities/pathology; Child; DNA Mutational Analysis; Epilepsy/epidemiology/*genetics/pathology; Ethnic Groups/genetics; Europe/epidemiology; Female; Gene Frequency; Genotype; Humans; Male; *Polymorphism, Single Nucleotide; Protein Precursors/*genetics; Research Support, Non-U.S. Gov't
AD CIREP, de Cirurgia de Epilepsia, Departamento de Neurologia, Psiquiatria e Psicologia Medica, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, Sao Paulo, Brazil. vmartins@ludwig.org.br
SP englisch
PO USA