The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome.
The Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene may modulate the epilepsy phenotype. We investigated the impact of polymorphisms in the BDNF gene on clinical features in fragile X syndrome (FXS). In our study sample, the Met66 allele associated with epilepsy of finnish FXS men. Abnormalities in BDNF-mediated plasticity are shown in FXS and the present data suggest that the Met66 allele might predispose FXS males to epilepsy.
Louhivuori
Verna
V
Department of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki FIN-00014, Finland.
Arvio
Maria
M
Soronen
Pia
P
Oksanen
Virpi
V
Paunio
Tiina
T
Castrén
Maija L
ML
D000293:Adolescent; D000328:Adult; D000368:Aged; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000150:complications* / Q000235:genetics*; D005387:Finland; D005600:Fragile X Syndrome / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D014633:Valine / Q000235:genetics; D055815:Young Adult
D019208:Brain-Derived Neurotrophic Factor; D008715:Methionine; D014633:Valine