A schematic model of the mechanism of enhanced activation of TSC neurons (IMAGE)

Tokyo Metropolitan Institute of Medical Science

A schematic model of the mechanism of enhanced activation of TSC neurons

Caption

In normal neurons, only certain parts are spontaneously activated. Loss of function of mutations in TSC1 or TSC2 leads to hyperactivation of mTOR. Hyperactivated mTOR increases LTCC expression and causes a large Ca2+ influx upon neuronal activation in TSC neurons. Increased Ca2+ influx causes abnormal axonal extensions and sustained activation of CREB. These physiological changes can trigger epilepsy in TSC.

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