Results 141 to 150 of about 1,419 (181)
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2018
Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
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Tuberous sclerosis complex (TSC) is an autosomal-dominant or sporadic multisystem disorder that results from mutations in either TSC1 or TSC2. The primary organs affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity.
Daphne M, Hasbani, Peter B, Crino
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The Neurobiology of the Tuberous Sclerosis Complex
NeuroMolecular Medicine, 2006Tuberous 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
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Neuroimaging in tuberous sclerosis complex
Current Opinion in Neurology, 2007In this review we discuss recent advances in the neuroimaging of patients with tuberous sclerosis complex (TSC), highlighting its application in improving clinical management, particularly in the case of intractable epilepsy.Progress in structural and functional imaging has led to further characterization of the brain lesions in TSC.
Aimee F, Luat +2 more
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Diagnosis of Tuberous Sclerosis Complex
Journal of Child Neurology, 2004Tuberous 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 P, Sparagana
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Diagnosis of tuberous sclerosis complex
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2015Tuberous sclerosis complex is a autosomal dominant instantly progressing disease, causing the development of benign tumors in all organs and tissues of human body. According to International Consensus Conference (2012), definite or possible TSC diagnosis can be made.
E D, Belousova +3 more
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Tuberous Sclerosis Complex in Children
Archives of Pediatrics & Adolescent Medicine, 1981Of 62 children seen at The Hospital for Sick Children, Toronto, who had tuberous sclerosis (TS), 58 had a history of seizures (developing during the first year of life in 37) and mental retardation was diagnosed in 51. Classic congenital hypopigmented patches were present in 42 and adenoma sebaceum occurred in 26 of the patients.
H P, Monaghan +3 more
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Hemimegalencephaly in Tuberous Sclerosis Complex
Journal of Child Neurology, 2002The 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 ...
Paolo, Galluzzi +5 more
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Vigabatrin for tuberous sclerosis complex
Brain and Development, 2001Vigabatrin (VGB) was found to be an effective anti-epileptic drug to reduce infantile spasms in about 50% of patients and it has been found most effective in infantile spasms due to tuberous sclerosis (TSC) in which up to 95% of infants had complete cessation of their spasms.
P, Curatolo +2 more
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Lymphedema in tuberous sclerosis complex
American Journal of Medical Genetics Part A, 2014Congenital lymphedema has been described as a possible rare association of tuberous sclerosis complex (TSC), with only six previous cases reported in the literature. TSC is an autosomal dominant, multisystem disorder connected to aberrant regulation of the mammalian target of rapamycin (mTOR) pathway.
Alexandra L, Geffrey +4 more
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The Neurobiology of Tuberous Sclerosis Complex
Seminars in Pediatric Neurology, 2006Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism.
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