Insights into the interplay between autism and epilepsy

Mutations in the FoxG1 gene lead to a specific type of Rett syndrome, a congenital genetic disorder characterized by intellectual disability, autistic behavior and, strikingly, epilepsy.
A study published by Giovanna Testa, Marco Mainardi and Antonino Cattaneo, describes a link among disrupted balance in the expression of proteins involved in excitatory and inhibitory synapse structure, impaired synaptic transmission and the occurrence of spontaneous seizures.
These findings, obtained from studying a transgenic model of the disease, can help in elucidating how molecular and cellular alterations in the gene network controlled by FoxG1 can lead to epileptic seizures in patients.

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