Epilepsy remains a major health concern as anti-seizure medications frequently fail, and
there is currently no treatment to stop or prevent epileptogenesis, the process underlying the …

Bottom-of-sulcus dysplasia (BOSD) is increasingly recognized as a cause of drug-resistant,
surgically-remediable, focal epilepsy, often in seemingly MRI-negative patients. We describe …

The mammalian target of rapamycin (mTOR) is an important molecular regulator of cell
growth and proliferation. Brain mTOR activity plays a crucial role in synaptic plasticity, cell …

GATOR1 (GAP Activity TOward Rag 1) is an evolutionarily conserved GTPase-activating
protein complex that controls the activity of mTORC1 (mammalian Target Of Rapamycin …

Abnormalities in the mammalian target of the rapamycin (mTOR) pathway have been
implicated in numerous developmental brain disorders. While the molecular and histological …

Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-
1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target …

Targeted therapies for epilepsies associated with the mTORC1 signaling negative regulator
GATOR1 are lacking. NPRL2 is a subunit of the GATOR1 complex and mutations in …

The present study is aimed to assess the population structure of hill cattle and analyze the
genomic footprints of selection and adaptation. The population structure and signatures of …