Results 211 to 220 of about 5,402,382 (253)
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The Indian Journal of Pediatrics, 2004
16month-old-male child with history of hypo pigmented lesion with recurrent attacks of generalized episodes of tonic clonic convulsions since the age of 3 months with g lobal d e v e l o p m e n t a l de l ay (DQ a r o u n d 60) Well circumscribed hypo pigmented lesions 7 in no.
N M, Suryavanshi +3 more
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16month-old-male child with history of hypo pigmented lesion with recurrent attacks of generalized episodes of tonic clonic convulsions since the age of 3 months with g lobal d e v e l o p m e n t a l de l ay (DQ a r o u n d 60) Well circumscribed hypo pigmented lesions 7 in no.
N M, Suryavanshi +3 more
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Mortality in tuberous sclerosis complex
Epilepsy & Behavior, 2021We studied mortality in tuberous sclerosis complex (TSC) by analyzing data from the Tuberous Sclerosis Alliance Natural History Database of 2233 patients from 18 United States TSC centers. Among 31 decedents with data; mean age of death was 29 years. Cause of death could be determined in 26 cases: 11 definitely related to TSC, 14 possibly related to ...
Shridhar Parthasarathy +4 more
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The Tuberous Sclerosis Complex
Scottish Medical Journal, 1968A typical case of tuberous sclerosis is described with the post-mortem findings. A suggestion is made to aid in the recognition of papilloedema.
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Neuroimaging in tuberous sclerosis complex
Child's Nervous System, 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple systems, due to inactivating mutations of TSC1 or TSC2 mTOR pathway genes. Neurological manifestations are observed in about 95% cases, representing the most frequent cause of morbidity and one of the most common causes of mortality.Neuroimaging is crucial for ...
Camilla Russo +5 more
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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Epilepsia Open, 2019 To present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC)
Rima Nabbout +2 more
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Autism in Tuberous Sclerosis Complex
Journal of Autism and Developmental Disorders, 1998The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD).
G C, Gutierrez +2 more
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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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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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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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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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