The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome

Epilepsy Res. 2009 Jul;85(1):114-7. doi: 10.1016/j.eplepsyres.2009.01.005. Epub 2009 Apr 25.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Brain-Derived Neurotrophic Factor / genetics*
  • DNA Mutational Analysis
  • Epilepsy / complications*
  • Epilepsy / genetics*
  • Finland
  • Fragile X Syndrome / complications*
  • Fragile X Syndrome / genetics*
  • Humans
  • Male
  • Methionine / genetics
  • Middle Aged
  • Polymorphism, Genetic / genetics*
  • Valine / genetics
  • Young Adult

Substances

  • Brain-Derived Neurotrophic Factor
  • Methionine
  • Valine