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

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 …

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

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

Objective The DEPDC5 (DEP domain‐containing protein 5) gene, encoding a repressor of
the mTORC1 signaling pathway, has recently emerged as a major gene mutated in familial …

Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most
common neurological conditions. The genetic basis of epilepsy is clear from epidemiological …

Objective The discovery of mutations in DEPDC 5 in familial focal epilepsies has introduced
a novel pathomechanism to a field so far dominated by ion channelopathies. DEPDC 5 is …

Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-
signaling cascade has been identified in focal malformations of cortical development (MCD) …

The unc-13 homolog B (UNC13B) gene encodes a presynaptic protein, mammalian
uncoordinated 13-2 (Munc13-2), which is highly expressed in the brain—predominantly in …

There is high variability in the response to antiepileptic treatment across people with
epilepsy. Genetic factors significantly contribute to such variability. Recent advances in the …