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 …
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 …
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 …
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 …
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 …
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 …
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 …
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) …
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 …