Results 81 to 90 of about 243,798 (221)

Coexistence of Renal Cell Carcinoma and Psoriasis in Tuberous Sclerosis Complex: A Shared mTOR Pathway Pathogenesis?

Clinical Case Reports
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal, Shraddha Uprety, Mukesh Kumar Ranjan, Pratichya Thapa, Bigyan Paudel, Prakriti Lamichhane   +5 more
doaj   +1 more source

Aggressive retinal astrocytoma associated with tuberous sclerosis

, 2012
Machiko Tomida,1 Yoshinori Mitamura,1 Takashi Katome,1 Hiroshi Eguchi,1 Takeshi Naito,1 Takayuki Harada21Department of Ophthalmology, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, 2Visual Research Project, Tokyo
Eguchi H, Harada T, Katome T, Mitamura Y, Tomida M, Naito T   +5 more
core  

TSC2 (tuberous sclerosis 2) [PDF]

, 2002
Review on TSC2 (tuberous sclerosis 2), with data on DNA, on the protein encoded, and where the gene is ...
Petri, Henske E, Astrinidis, A
core   +1 more source

Tuberous Sclerosis

, 1968
Tuberous Sclerosis. Astrocytic hamartoma of the optic disc. Anatomy: Optic disc. Pathology: Astrocytic hamartoma. Disease/Diagnosis: Tuberous sclerosis.
William F. Hoyt, MD
core  

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report

Frontiers in Medicine
BackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo, Juan Manuel Quintero, Oswaldo Aguilar Molina, Marlon Arias-Intriago, Fernando P. Melgar Muñoz, Juan S. Izquierdo-Condoy   +5 more
doaj   +1 more source

Managing Epilepsy in Tuberous Sclerosis Complex

, 2004
Epilepsy is very common in tuberous sclerosis complex and occurs in 80 to 90% of affected individuals during their lifetime. Onset usually occurs during childhood, and up to one third of children with tuberous sclerosis complex will develop infantile ...
Elizabeth Anne Thiele
core   +1 more source

Early autism symptoms in infants with tuberous sclerosis complex [PDF]

, 2017
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age.
Shafali S. Jeste, Nicole M. McDonald, Kandice J. Varcin, Bhatt, Rujuta, Sahin, M, Mustafa Sahin, Charles A. Nelson, Varcin, KJ, McDonald, Nicole M, Sahin, Mustafa, Bhatt, R, Varcin, Kandice J, Joyce Y. Wu, McDonald, NM, Jeste, Shafali S, Nelson, CA, Rujuta Bhatt, Nelson, Charles A, Wu, JY, Jeste, SS, Wu, Joyce Y   +20 more
core   +1 more source

From triggers to ictal events: A video case series of reflex seizures

Epileptic Disorders, EarlyView.
Laure Salmon, Nicolas Nguyen, Dang Khoa Nguyen, Olivier Aron   +3 more
wiley   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source