Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Clinical potential of neurosteroids for CNS disorders

DS Reddy, WA Estes - Trends in pharmacological sciences, 2016 - cell.com
Neurosteroids are key endogenous molecules in the brain that affect many neural functions.
We describe here recent advances in US National Institutes of Health (NIH)-sponsored and …

Sex differences in the epilepsies and associated comorbidities: implications for use and development of pharmacotherapies

CA Christian, DS Reddy, J Maguire, PA Forcelli - Pharmacological Reviews, 2020 - ASPET
The epilepsies are common neurologic disorders characterized by spontaneous recurrent
seizures. Boys, girls, men, and women of all ages are affected by epilepsy and, in many …

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 …

[HTML][HTML] Mammalian target of rapamycin (mTOR) pathways in neurological diseases

M Wong - Biomedical journal, 2013 - ncbi.nlm.nih.gov
The mammalian target of rapamycin (mTOR) pathway is an essential cellular signaling
pathway involved in a number of important physiological functions, including cell growth …

The system epilepsies: a pathophysiological hypothesis

G Avanzini, P Manganotti, S Meletti, SL Moshé… - …, 2012 - Wiley Online Library
We postulate that “system epilepsies”(SystE) are due to an enduring propensity to generate
seizures of functionally characterized brain systems. Data supporting this hypothesis—that …

Finding a better drug for epilepsy: the mTOR pathway as an antiepileptogenic target

AS Galanopoulou, JA Gorter, C Cepeda - Epilepsia, 2012 - Wiley Online Library
The mammalian target of rapamycin (mTOR) signaling pathway regulates cell growth,
differentiation, proliferation, and metabolism. Loss‐of‐function mutations in upstream …

Role of the mTOR signaling pathway in epilepsy

XF Meng, JT Yu, JH Song, S Chi, L Tan - Journal of the neurological …, 2013 - Elsevier
Epilepsy, a common neurological disorder and cause of significant morbidity and mortality,
places an enormous burden on the individual and society. Presently, most drugs for epilepsy …

mTOR inhibition in epilepsy: rationale and clinical perspectives

AP Ostendorf, M Wong - CNS drugs, 2015 - Springer
Despite a large number of available medical options, many individuals with epilepsy are
refractory to existing therapies that mainly target neurotransmitter or ion channel activity. A …

Current understanding and neurobiology of epileptic encephalopathies

S Auvin, MR Cilio, A Vezzani - Neurobiology of disease, 2016 - Elsevier
Epileptic encephalopathies are a group of diseases in which epileptic activity itself
contributes to severe cognitive and behavioral impairments above and beyond what might …