Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy

E Marsan, S Baulac - Neuropathology and applied …, 2018 - Wiley Online Library
Over the last decade, there has been increasing evidence that hyperactivation of the
mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical …

Targeting molecules to medicine with mTOR, autophagy and neurodegenerative disorders

K Maiese - British journal of clinical pharmacology, 2016 - Wiley Online Library
Neurodegenerative disorders are significantly increasing in incidence as the age of the
global population continues to climb with improved life expectancy. At present, more than 30 …

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

JS Lim, W Kim, HC Kang, SH Kim, AH Park, EK Park… - Nature medicine, 2015 - nature.com
Focal cortical dysplasia type II (FCDII) is a sporadic developmental malformation of the
cerebral cortex characterized by dysmorphic neurons, dyslamination and medically …

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

LA Jansen, GM Mirzaa, GE Ishak, BJ O'Roak, JB Hiatt… - Brain, 2015 - academic.oup.com
Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …

Noninflammatory changes of microglia are sufficient to cause epilepsy

X Zhao, Y Liao, S Morgan, R Mathur, P Feustel… - Cell reports, 2018 - cell.com
Microglia are well known to play a critical role in maintaining brain homeostasis. However,
their role in epileptogenesis has yet to be determined. Here, we demonstrate that elevated …

Autism spectrum disorder and epilepsy: disorders with a shared biology

BH Lee, T Smith, AR Paciorkowski - Epilepsy & Behavior, 2015 - Elsevier
There is an increasing recognition of clinical overlap in patients presenting with epilepsy
and autism spectrum disorder (ASD), and a great deal of new information regarding the …

Inflammatory aspects of epileptogenesis: contribution of molecular inflammatory mechanisms

F Alyu, M Dikmen - Acta neuropsychiatrica, 2017 - cambridge.org
ObjectiveEpilepsy is a chronic neurological disease characterised with seizures. The
aetiology of the most generalised epilepsies cannot be explicitly determined and the …

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis

R Citraro, A Leo, A Constanti, E Russo… - Pharmacological …, 2016 - Elsevier
Several preclinical and some clinical studies have revealed that the mammalian target of
rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy …

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

MR Winawer, NG Griffin, J Samanamud… - Annals of …, 2018 - Wiley Online Library
Objective Somatic variants are a recognized cause of epilepsy‐associated focal
malformations of cortical development (MCD). We hypothesized that somatic variants may …

Post-traumatic epilepsy and comorbidities: advanced models, molecular mechanisms, biomarkers, and novel therapeutic interventions

VM Golub, DS Reddy, C France - Pharmacological reviews, 2022 - Elsevier
Post-traumatic epilepsy (PTE) is one of the most devastating long-term, network
consequences of traumatic brain injury (TBI). There is currently no approved treatment that …