Fig. 1

Schematic overview of the potential role of glia in the neurological phenotypes of TSC. TSC1 or TSC2 gene mutations lead to abnormal hyperactivation of the mechanistic target of rapamycin (mTOR) pathway, which can directly (through cell autonomous effects) or indirectly (through interactions with other cells) cause astrogliosis, microglial activation, and decreased oligodendrocytes. These glial abnormalities can then affect neuronal function through multiple mechanisms, such as impaired glutamate and potassium homeostasis, synaptic remodeling, inflammatory processes, and hypomyelination, which ultimately lead to epilepsy, intellectual disability, autism, and other TSC-associated neuropsychiatric disorders (TAND)