Attention deficits in tuberous sclerosis complex (TSC): rethinking the pathways to the endstate
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چکیده
منابع مشابه
Tuberous sclerosis complex (TSC) gene involvement in sporadic tumours.
In tuberous sclerosis patients, inactivation of the tuberous sclerosis complex tumour-suppressor genes TSC1 and TSC2 contributes to the development of a wide range of hamartomatous lesions. These patients do not, however, show an increased risk of the common adult solid cancers. Recent evidence that the TSC genes play a role in the phosphoinositide 3-kinase pathway, a pathway whose dysregulatio...
متن کاملThe tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...
متن کاملTuber or Not Tuber: The Question of Epileptogenic Lesions in Tuberous Sclerosis Complex (TSC).
Commentary In any form of epilepsy associated with distinct anatomical le-sions within the brain, questions arise as to whether the lesional tissue alone is epileptogenic, whether perilesional cortex is also epileptogenic, or whether even more remote cortical regions that appear structurally normal may serve as independent epileptic foci. In disorders associated with multiple distinct lesions, ...
متن کاملEvolving Strategies in the Treatment of Tuberous Sclerosis Complex-associated Angiomyolipomas (TSC-AML).
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder characterized by the development of numerous benign tumors that occur in multiple organ systems throughout the lifetime of the affected individuals. Renal angiomyolipomas occur in up to 80% of TSC patients, and chronic kidney disease from increasing tumor burden is the primary cause of TSC-related mortality. Our revi...
متن کاملNeuroanatomical correlates of memory deficits in tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is a multisystem syndrome classically associated with the occurrence of focal brain dysplasias. We used structural magnetic resonance imaging to test for neuroradiological abnormalities in TSC (tubers, white matter lesions, and subependymal nodules) and to explore the relationships between these lesions and computational morphometric abnormalities of gray and wh...
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ژورنال
عنوان ژورنال: Journal of Intellectual Disability Research
سال: 2008
ISSN: 0964-2633,1365-2788
DOI: 10.1111/j.1365-2788.2007.01030.x