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 …

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 …

[HTML][HTML] An ode to fetal, infant, and toddler neuroimaging: Chronicling early clinical to research applications with MRI, and an introduction to an academic society …

A Pollatou, CA Filippi, E Aydin, K Vaughn… - Developmental cognitive …, 2022 - Elsevier
Fetal, infant, and toddler neuroimaging is commonly thought of as a development of modern
times (last two decades). Yet, this field mobilized shortly after the discovery and …

Effects of mutations in TSC genes on neurodevelopment and synaptic transmission

D Bassetti, HJ Luhmann, S Kirischuk - International journal of molecular …, 2021 - mdpi.com
Mutations in TSC1 or TSC2 genes are linked to alterations in neuronal function which
ultimately lead to the development of a complex neurological phenotype. Here we review …

Risk factors associated with refractory epilepsy in patients with tuberous sclerosis complex: a systematic review

D Miszewska, M Sugalska, S Jóźwiak - Journal of Clinical Medicine, 2021 - mdpi.com
Background: Epilepsy affects 70–90% of patients with tuberous sclerosis complex (TSC). In
one-third of them, the seizures become refractory to treatment. Drug-resistant epilepsy …

Tuberous sclerosis complex and epilepsy in infancy: Prevention and early diagnosis

A de Saint Martin, S Napuri, S Nguyen - Archives de Pédiatrie, 2022 - Elsevier
Numerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis
Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication …

Abnormal white matter microstructure in the limbic system is associated with tuberous sclerosis Complex-associated neuropsychiatric disorders

A Sato, K Tominaga, Y Iwatani, Y Kato… - Frontiers in …, 2022 - frontiersin.org
Objective Tuberous sclerosis complex (TSC) is a genetic disease that arises from TSC1 or
TSC2 abnormalities and induces the overactivation of the mammalian/mechanistic target of …

Early diagnosis of tuberous sclerosis complex: Prenatal diagnosis

M Bekiesinska-Figatowska, P Sobieraj… - American Journal …, 2023 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Strong emphasis has been placed recently on early (4
postnatal months) detection of tuberous sclerosis complex and the introduction of …

Understanding speech and language in tuberous sclerosis complex

TT Gipson, DK Oller, DS Messinger… - Frontiers in human …, 2023 - frontiersin.org
Tuberous Sclerosis Complex (TSC), is a neurocutaneous disorder, associated with a high
prevalence of autism spectrum disorder (ASD;∼ 50% of individuals). As TSC is a leading …

Learnings in developmental and epileptic encephalopathies: what do we know?

MG Perinelli, A Riva, E Amadori, R Follo… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Introduction Developmental and Epileptic Encephalopathies (DEEs)
encompass a group of neurological disorders caused by either abnormal neuronal …