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.
CIREP, de Cirurgia de Epilepsia, Departamento de Neurologia, Psiquiatria e Psicologia Médica, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, São Paulo, Brazil. vmartins@ludwig.org.br
R
R
Walz
R M R P S
RM
Castro
M C
MC
Landemberger
T R
TR
Velasco
V C
VC
Terra-Bustamante
A C
AC
Bastos
M
M
Bianchin
L
L
Wichert-Ana
D
D
Araújo
V
V
Alexandre
A C
AC
Santos
H R
HR
Machado
C G
CG
Carlotti
R R
RR
Brentani
V R
VR
Martins
A C
AC
Sakamoto
D000293:Adolescent; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D000682:Amyloid / Q000235:genetics*; D017209:Apoptosis; D001938:Brazil / Q000453:epidemiology; D002455:Cell Division; D002465:Cell Movement; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D005006:Ethnicity / Q000235:genetics; D005060:Europe / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors / Q000235:genetics*
D000682:Amyloid; C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions; D011498:Protein Precursors