Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that
controls several important aspects of mammalian cell function. mTOR activity is modulated …

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the …

Tuberous sclerosis complex (TSC) and focal cortical dysplasia (FCD) are focal
malformations of cortical development (FMCDs) that are highly associated with intractable …

Spinal cord injury (SCI) is the most common disabling spinal injury, and the complex
pathological process can eventually lead to severe neurological dysfunction. Many studies …

Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) due to
mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a …

Multiple autism risk genes converge on the regulation of mTOR signalling, which is a key
effector of neuronal growth and connectivity. We show that mTOR signalling is dysregulated …

The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing
number of malformations of cortical development (MCD) associated with intractable …

Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development
because the genes that cause TSC are known, many downstream molecular pathways have …

The causative link between focal cortical malformations (FCMs) and epilepsy is well
accepted, especially among patients with focal cortical dysplasia type II (FCDII) and …

Hyperactivation of the mammalian target of rapamycin (mTOR) pathway can cause
malformation of cortical development (MCD) with associated epilepsy and intellectual …