Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

[HTML][HTML] Tuberous sclerosis complex

H Northrup, MK Koenig, DA Pearson, KS Au - 2021 - europepmc.org
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic
macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic …

[HTML][HTML] TuberOus SClerosis registry to increase disease Awareness (TOSCA)–baseline data on 2093 patients

JC Kingswood, GB d'Augères, E Belousova… - Orphanet journal of rare …, 2017 - Springer
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic
disorder. Many gaps remain in the understanding of TSC because of the complexity in …

A clinical update on tuberous sclerosis complexassociated neuropsychiatric disorders (TAND)

PJ De Vries, L Wilde, MC De Vries… - American Journal of …, 2018 - Wiley Online Library
Tuberous sclerosis complex (TSC) is associated with a wide range of behavioral,
psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties, which …

Presentation and diagnosis of tuberous sclerosis complex in infants

PE Davis, R Filip-Dhima, G Sideridis, JM Peters… - …, 2017 - publications.aap.org
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with
a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging …

[HTML][HTML] 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
developing both epilepsy and autism spectrum disorder (ASD), but the relationship between …

[HTML][HTML] Early clinical predictors of autism spectrum disorder in infants with tuberous sclerosis complex: results from the EPISTOP study

R Moavero, A Benvenuto, L Emberti Gialloreti… - Journal of Clinical …, 2019 - mdpi.com
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis
Complex (TSC), but we are not still able to reliably predict which infants will develop ASD …

Shared etiology in autism spectrum disorder and epilepsy with functional disability

A Zahra, YF Wang, Q Wang, J Wu - Behavioural Neurology, 2022 - Wiley Online Library
Autism spectrum disorders and epilepsies are heterogeneous human disorders that have
miscellaneous etiologies and pathophysiology. There is considerable risk of frequent …

[HTML][HTML] Ketogenic diet therapy for drug-resistant epilepsy and cognitive impairment in children with tuberous sclerosis complex

Y Fang, D Li, M Wang, X Zhao, J Duan, Q Gu… - Frontiers in …, 2022 - frontiersin.org
Objective Tuberous sclerosis complex (TSC) is a rare disease with a high risk of epilepsy
and cognitive impairment in children. Ketogenic diet (KD) therapy has been consistently …

[HTML][HTML] A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report

S Auvin, JJ Bissler, V Cottin, A Fujimoto… - Orphanet journal of rare …, 2019 - Springer
Background Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic
disorder associated with mutations in TSC1 and TSC2 genes, upregulation of mammalian …