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Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
Published on: July 6, 2022
The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome
Verna Louhivuori1, Maria Arvio, Pia Soronen
1Department of Biomedicine/Physiology, Biomedicum Helsinki, University of Helsinki, Helsinki FIN-00014, Finland.
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.
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