Results 81 to 90 of about 42,064 (302)

Novel Pathogenic Variant in Exon 31 of the TSC2 Gene Associated With a Severe Phenotype of Tuberous Sclerosis

Annals of the Child Neurology Society, EarlyView.
Tabitha D'souza, Laura Davids, Prabhumallikarjun Patil   +2 more
wiley   +1 more source

Ictal emotional features in pediatric and young adult patients with frontal lobe epilepsy

Epilepsia Open, EarlyView.
Abstract Objective To assess the localization and lateralization values of ictal emotional features and ictal defensive behaviors in pediatric and young adult patients with frontal lobe epilepsy (FLE). Methods Children and young adults with FLE were identified from a single institution's epilepsy surgery database.
Ming‐Chen Tsai, Ching‐Po Lin, Anthony Fine, Katherine Nickels, Keith Starnes, Elaine Wirrell, Lily C. Wong‐Kisiel   +6 more
wiley   +1 more source

Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]

Journal of Cardio-Thoracic Medicine, 2015
Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj  

Neuropsychological attention deficits in tuberous sclerosis complex (TSC).

, 2009
Tuberous sclerosis complex (TSC) (OMIM191100) is a genetic disorder with multi-system involvement including neurodevelopmental manifestations. There is great interest in understanding the pathogenetic mechanisms underlying these neurobehavioral and ...
Anderson, Anderson, Anderson, Bolton, Braffman, Cass, Crino, Curatolo, de Vries, de Vries, de Vries, de Vries, Dunn, Harrell, Holmes, Hu, Hudspeth, Inoki, Joinson, Kwiatkowski, Lai, Luciana, Luna, Manly, Manly, McKay, Niida, O'Callaghan, Povey, Prather, Ramesh, Raven, Raznahan, Ridler, Ridler, Roach, Shepp, Slaats-Willemse, Smalley   +38 more
core   +1 more source

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex [PDF]

, 2020
BACKGROUND: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important.
Au, Kit Sing, Bebin, Elizabeth M, Farach, Laura S, Krueger, Darcy A, Lupo, Philip J, Northrup, Hope, Richard, Melissa A, Sahin, Mustafa, TACERN Study Group, Wu, Joyce Y   +9 more
core   +1 more source

Cognitive outcomes after deep brain stimulation in drug‐resistant epilepsy: A comparison of anterior thalamic and hippocampal stimulation

Epilepsia Open, EarlyView.
Abstract Objective Deep brain stimulation (DBS) of the anterior thalamic nucleus (ATN) and hippocampus is an emerging therapy for drug‐resistant epilepsy (DRE) when resective surgery is not feasible. We aimed to evaluate the long‐term cognitive outcomes of these two DBS targets, hypothesizing that both interventions preserve cognitive function ...
Seonjeong Kim, Semina Jung, Seunghoon Lee, Eun Yeon Joo, Dae‐Won Seo, Young‐Min Shon   +5 more
wiley   +1 more source

Tuberous Sclerosis Complex: A Roadmap for Future Research

Pediatric Neurology Briefs, 2016
Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state ...
Anna Jeong
doaj   +1 more source

Tuberous sclerosis complex: a case report [PDF]

, 2017
Tuberous Sclerosis Complex is an autosomal dominant phakomatosis. This neurocutaneous disorder usually presents with seizures, facial angiofibroma and mental retardation (Vogt’s triad).
Jenner, Feroz P., Kharim, Abdul, Poolakundan, Harris, Sasidharan, Anjana, Vijayalekshmi, S.   +4 more
core   +2 more sources

A Focus on Natural Autophagy Modulators as Potential Host‐Directed Weapons Against Emerging and Re‐Emerging Viruses

Medicinal Research Reviews, EarlyView.
ABSTRACT Autophagy is a highly conserved intracellular process involved in maintaining homeostasis and in the degradation of damaged organelles and external pathogens. Nature provides complex and varied reservoirs of scaffolds and chemical entities that may have a pivotal role in the search for new therapeutic leads.
Ilaria Cursaro, Sara Rossi, Stefania Butini, Sandra Gemma, Gabriele Carullo, Giuseppe Campiani   +5 more
wiley   +1 more source

Paradigm shift in the treatment of tuberous sclerosis: Effectiveness of everolimus

Pharmacological Research, 2023
Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterised by abnormal cell proliferation and differentiation that affects multiple organs and can lead to the growth of hamartomas.
Roberto Previtali, Giorgia Prontera, Enrico Alfei, Luisa Nespoli, Silvia Masnada, Pierangelo Veggiotti, Savina Mannarino   +6 more
doaj