Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …

Therapeutic and clinical foundations of cannabidiol therapy for difficult-to-treat seizures in children and adults with refractory epilepsies

DS Reddy - Experimental neurology, 2023 - Elsevier
Novel and effective antiseizure medications are needed to treat refractory and rare forms of
epilepsy. Cannabinoids, which are obtained from the cannabis plant, have a long history of …

Prevention of epilepsy in infants with tuberous sclerosis complex in the EPISTOP trial

K Kotulska, DJ Kwiatkowski, P Curatolo… - Annals of …, 2021 - Wiley Online Library
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC)
and is often resistant to medication. Recently, the concept of preventive antiepileptic …

Impact of predictive, preventive and precision medicine strategies in epilepsy

R Nabbout, M Kuchenbuch - Nature Reviews Neurology, 2020 - nature.com
Over the last decade, advances in genetics, neuroimaging and EEG have enabled the
aetiology of epilepsy to be identified earlier in the disease course than ever before. At the …

AMPK-regulated astrocytic lactate shuttle plays a non-cell-autonomous role in neuronal survival

R Muraleedharan, MV Gawali, D Tiwari, A Sukumaran… - Cell reports, 2020 - cell.com
Lactate is used as an energy source by producer cells or shuttled to neighboring cells and
tissues. Both glucose and lactate fulfill the bioenergetic demand of neurons, the latter …

The genetics of tuberous sclerosis complex and related mTORopathies: current understanding and future directions

A Man, M Di Scipio, S Grewal, Y Suk, E Trinari, R Ejaz… - Genes, 2024 - mdpi.com
The mechanistic target of rapamycin (mTOR) pathway serves as a master regulator of cell
growth, proliferation, and survival. Upregulation of the mTOR pathway has been shown to …

A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)

JP Zöllner, DN Franz, C Hertzberg, R Nabbout… - Orphanet journal of rare …, 2020 - Springer
Objective This review will summarize current knowledge on the burden of illness (BOI) in
tuberous sclerosis complex (TSC), a multisystem genetic disorder manifesting with …

Review of the treatment options for epilepsy in tuberous sclerosis complex: towards precision medicine

S Schubert-Bast, A Strzelczyk - Therapeutic advances in …, 2021 - journals.sagepub.com
Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in the
TSC1 or TSC2 genes, which encode proteins that antagonise the mammalian isoform of the …

[HTML][HTML] Current approaches and future directions for the treatment of mTORopathies

V Karalis, HS Bateup - Developmental neuroscience, 2021 - karger.com
The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily
conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds …

Autism and epilepsy in patients with tuberous sclerosis complex

N Specchio, N Pietrafusa, M Trivisano… - Frontiers in …, 2020 - frontiersin.org
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of
develo** both epilepsy and autism spectrum disorder (ASD), but the relationship between …