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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Clinical characteristics Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules ...
A. Peron, H. Northrup
semanticscholar +1 more source
Clinical characteristics Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules ...
A. Peron, H. Northrup
semanticscholar +1 more source
Current concepts on epilepsy management in tuberous sclerosis complex
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease affecting approximately 1 in 6,000 people, and represents one of the most common genetic causes of epilepsy.
M. Canevini +8 more
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European Journal of Paediatric Neurology, 2004
Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the
CURATOLO, PAOLO +3 more
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Despite considerable progress in the last few years, the neurobiologic basis of autism in tuberous sclerosis complex is still largely unknown and its clinical management represents a major challenge for child neurologists. Recent evidence suggests that early-onset refractory epilepsy and functional deficits associated with the anatomical lesions in the
CURATOLO, PAOLO +3 more
openaire +5 more sources
2015
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable.
E. Steve Roach, Monica P. Islam
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Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable.
E. Steve Roach, Monica P. Islam
openaire +4 more sources
2005
Publisher Summary Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas and hamartias in several organ systems.TSC is a relatively variable clinical syndrome, in which several pathologic manifestations are highly specific for the disease.
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Publisher Summary Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas and hamartias in several organ systems.TSC is a relatively variable clinical syndrome, in which several pathologic manifestations are highly specific for the disease.
openaire +2 more sources
Renal disease in tuberous sclerosis complex: pathogenesis and therapy
Nature Reviews Nephrology, 2018H. Lam, B. Siroky, E. Henske
semanticscholar +1 more source
The Danish Multiple Sclerosis Registry
Brain and Behavior, 2021Melinda Magyari, Nils Koch-henriksen
exaly