Article
Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?
Epilepsy & behavior : E&B - 1 Nov 2011
Tondo Mireia, Poo Pilar, Naudó Montserrat, Ferrando Teresa, Genovés Jordi, Molero Marta, Martorell Loreto
Abstract excerpt
Epilepsy is detected in about 23% of patients with fragile X syndrome (FXS). Absence or reduced levels of the fragile X mental retardation protein (FMRP), a global regulator of translation in neurons and an important factor in synaptic plasticity, produce the observed epileptic patterns. The brain-derived neurotrophic factor (BDNF) gene is a specific regulator of synaptic plasticity, and disturbances in its...
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