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Diagnosis of Tuberous Sclerosis Complex

Journal of Child Neurology, 2004
Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous sclerosis complex can be difficult in the young or in individuals with subtle findings. Recently revised consensus diagnostic criteria for tuberous sclerosis complex reflect an improved understanding
E. Steve Roach, Steven Sparagana
openaire   +3 more sources

The Neurobiology of the Tuberous Sclerosis Complex

NeuroMolecular Medicine, 2006
Tuberous sclerosis complex (TSC) is a multisystem disorder that affects numerous organ systems. Brain lesions that form during development, known as tubers, are highly associated with epilepsy, cognitive disability, and autism. Following the identification of two genes and their encoded proteins, TSC1 (hamartin) and TSC2 (tuberin), responsible for TSC,
Leah Marcotte, Peter B. Crino
openaire   +3 more sources

Tuberous Sclerosis Complex

2009
Tuberous Sclerosis Complex is an autosomal dominant dysgenetic disorder characterized by hamartomas and neoplasms involving the CNS, as well as various other tissues. The causative mutations involve TSC 1 and TSC 2 genes located on 9q and 16p, respectively.
Adekunle M. Adesina, Tarik Tihan
openaire   +2 more sources

Tuberous Sclerosis Complex: A Review

Journal of Pediatric Health Care, 2007
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder characterized by the potential for hamartoma formation in almost every organ. The inheritance is autosomal dominant with almost complete penetrance but variable expressivity. The two gene loci that code for TSC are TSC1, located on chromosome 9q34, and TSC2 on 16p13.3. TSC complex
Alexander K. C. Leung, W. Lane M. Robson
openaire   +2 more sources

Hemimegalencephaly in Tuberous Sclerosis Complex

Journal of Child Neurology, 2002
The purpose of this case report is to describe the computed tomographic and magnetic resonance imaging findings of the brain of a 16-month-old girl with an uncommon association between hemimegalencephaly and tuberous sclerosis complex. When a large calcification is found within a hemimegalencephalic cerebral hemisphere, further investigation of a ...
Carlo Venturi   +5 more
openaire   +3 more sources

Tuberous Sclerosis Complex

Journal of Cutaneous Medicine and Surgery, 2023
Li-wen Zhang, Tao Chen
openaire   +2 more sources

The Tuberous Sclerosis Complex

2016
Tuberous Sclerosis Complex (TCS) is a neurocutaneous syndrome affecting the skin, central nervous system, heart, kidney, lung and other sites of the human body. The onset of facial angiofibromas (FA) is at about 5 years old and becomes more evident later. After puberty, FA lesions grow and may bleed, often causing discomfort. The primary treatments for
openaire   +2 more sources

Radiation therapy‐associated toxicity: Etiology, management, and prevention

Ca-A Cancer Journal for Clinicians, 2021
Kyle Wang
exaly  

Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex

Pediatric Drugs, 2020
Emma A van der Poest Clement   +3 more
semanticscholar   +1 more source

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