Astrocytes: role and functions in brain pathologies

R Siracusa, R Fusco, S Cuzzocrea - Frontiers in Pharmacology, 2019 - frontiersin.org
Astrocytes are a population of cells with distinctive morphological and functional
characteristics that differ within specific areas of the brain. Postnatally, astrocyte progenitors …

Therapeutic role of targeting mTOR signaling and neuroinflammation in epilepsy

SL Hodges, JN Lugo - Epilepsy research, 2020 - Elsevier
Existing therapies for epilepsy are primarily symptomatic and target mechanisms of neuronal
transmission in order to restore the excitatory/inhibitory imbalance in the brain after seizures …

Convergent and divergent mechanisms of epileptogenesis in mTORopathies

LH Nguyen, A Bordey - Frontiers in neuroanatomy, 2021 - frontiersin.org
Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) due to
mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a …

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

M Scala, A Bianchi, F Bisulli, A Coppola… - Expert review of …, 2020 - Taylor & Francis
Introduction: Epileptic disorders are a heterogeneous group of medical conditions with
epilepsy as the common denominator. Genetic causes, electro-clinical features, and …

Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy

JK Kim, J Cho, SH Kim, HC Kang… - The Journal of …, 2019 - Am Soc Clin Investig
Brain somatic mutations confer genomic diversity in the human brain and cause
neurodevelopmental disorders. Recently, brain somatic activating mutations in MTOR have …

Hyperactivity of mTORC1-and mTORC2-dependent signaling mediates epilepsy downstream of somatic PTEN loss

ER Cullen, M Safari, I Mittelstadt, MC Weston - Elife, 2024 - elifesciences.org
Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and
cortical malformations in humans. Some gene variants associated with these pathologies …

Seizures exacerbate excitatory: inhibitory imbalance in Alzheimer's disease and 5XFAD mice

AJ Barbour, S Gourmaud, E Lancaster, X Li… - Brain, 2024 - academic.oup.com
Approximately 22% of Alzheimer's disease (AD) patients suffer from seizures, and the co-
occurrence of seizures and epileptiform activity exacerbates AD pathology and related …

Antitumor potential of antiepileptic drugs in human glioblastoma: Pharmacological targets and clinical benefits

M Stella, G Baiardi, S Pasquariello, F Sacco… - Biomedicines, 2023 - mdpi.com
Glioblastoma (GBM) is characterized by fast-growing cells, genetic and phenotypic
heterogeneity, and radio-chemo-therapy resistance, contributing to its dismal prognosis …

Cortical neuronal hypertrophy and mTOR pathway activation in CAN regions in SUDEP

S Patodia, YM Lim, F Chung, I Stylianou… - …, 2022 - Wiley Online Library
Objectives Dysfunctional connectivity and preexisting structural abnormalities of central
autonomic network (CAN) regions have been shown on magnetic resonance imaging (MRI) …

[HTML][HTML] Hyperactivity of mTORC1 or mTORC2-dependent signaling causes epilepsy downstream of somatic PTEN loss

ER Cullen, I Mittelstadt, MC Weston - eLife, 2023 - elifesciences.org
Gene variants that hyperactivate PI3K-mTOR signaling in the brain lead to epilepsy and
cortical malformations in humans. Some gene variants associated with these pathologies …