Astrocytes in the initiation and progression of epilepsy
Epilepsy affects~ 65 million people worldwide. First-line treatment options include> 20
antiseizure medications, but seizure control is not achieved in approximately one-third of …
antiseizure medications, but seizure control is not achieved in approximately one-third of …
Psychobehavioural and cognitive adverse events of anti-seizure medications for the treatment of developmental and epileptic encephalopathies
A Strzelczyk, S Schubert-Bast - CNS drugs, 2022 - Springer
The developmental and epileptic encephalopathies encompass a group of rare syndromes
characterised by severe drug-resistant epilepsy with onset in childhood and significant …
characterised by severe drug-resistant epilepsy with onset in childhood and significant …
The tuberous sclerosis complex
PB Crino, KL Nathanson… - New England Journal of …, 2006 - Mass Medical Soc
The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …
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 …
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …
Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy
E Aronica, N Specchio, MJ Luinenburg, P Curatolo - Brain, 2023 - academic.oup.com
Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …
Early treatment with vigabatrin does not decrease focal seizures or improve cognition in tuberous sclerosis complex: the PREVeNT trial
EM Bebin, JM Peters, BE Porter… - Annals of …, 2024 - Wiley Online Library
Objective This study was undertaken to test the hypothesis that early vigabatrin treatment in
tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of …
tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of …
mTOR pathway: insights into an established pathway for brain mosaicism in epilepsy
The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …
EANO-EURACAN-SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors
R Rudà, D Capper, AD Waldman, J Pallud… - Neuro …, 2022 - academic.oup.com
In the new WHO 2021 Classification of CNS Tumors the chapter “Circumscribed astrocytic
gliomas, glioneuronal and neuronal tumors” encompasses several different rare tumor …
gliomas, glioneuronal and neuronal tumors” encompasses several different rare tumor …
[HTML][HTML] Tuberous sclerosis complex
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …
Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth
Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a
neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas …
neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas …