Abstract The Ser/Thr kinase mechanistic target of rapamycin (mTOR) is a central regulator of
cellular metabolism. As part of mTOR complex 1 (mTORC1), mTOR integrates signals such …

Epilepsy is one of the most common serious brain conditions, affecting over 70 million
people worldwide. Its incidence has a bimodal distribution with the highest risk in infants and …

The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …

The mechanistic target of rapamycin (mTOR) coordinates eukaryotic cell growth and
metabolism with environmental inputs, including nutrients and growth factors. Extensive …

Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Sudden unexpected death in epilepsy (SUDEP) can affect individuals of any age, but is most
common in younger adults (aged 20–45 years). Generalised tonic-clonic seizures are the …

The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

Defining the multiple roles of the mechanistic (formerly'mammalian') target of rapamycin
(mTOR) signalling pathway in neurological diseases has been an exciting and rapidly …

Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

Purpose To define the phenotypic and mutational spectrum of epilepsies related to
DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator …