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New clue found for Fragile X Syndrome-epilepsy link

Not all individuals with fragile X syndrome develop epilepsy. 

People with fragile X syndrome, the most common inherited form of intellectual disability, often develop epilepsy, but so far the underlying causes are unknown.

Emory researchers have now discovered a potential mechanism that may contribute to the link between epilepsy and fragile X syndrome.

The protein that is missing in fragile X syndrome, FMRP, controls the production of a protein that regulates electrical signals in brain cells, the research team has found. In mice missing FMRP, brain cells produced less of a protein called Kv4.2, which regulates the excitability of neurons in the hippocampus, a region of the brain important for learning and memory. A mutation of the gene encoding Kv4.2 leads to temporal lobe epilepsy in people.

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