Efficacy and Safety of Topical Sirolimus Therapy for Facial Angiofibromas in the Tuberous Sclerosis Complex: A Randomized Clinical Trial
Sign Up to like & getrecommendations! Published in 2017 at "JAMA Dermatology"
DOI: 10.1001/jamadermatol.2016.3545
Abstract: Importance Inhibitors of mammalian target of rapamycin complex 1, such as sirolimus, effectively target skin lesions in tuberous sclerosis complex (TSC). However, systemic treatment causes adverse effects, and topical sirolimus has shown promise in the… read more here.
Keywords: tuberous sclerosis; topical sirolimus; trial; treatment ... See more keywords
Association of Cognitive and Behavioral Features Between Adults With Tuberous Sclerosis and Frontotemporal Dementia.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2019.4284
Abstract: Importance Individuals with tuberous sclerosis complex can develop a progressive neuropsychiatric syndrome known as tuberous sclerosis-associated neuropsychiatric disorders. Tuberous sclerosis-associated neuropsychiatric disorders symptoms overlap with clinical criteria for frontotemporal dementia, yet the association between the… read more here.
Keywords: sclerosis; tuberous sclerosis; frontotemporal dementia; sclerosis associated ... See more keywords
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51128
Abstract: To evaluate the relationship between age at seizure onset and neurodevelopmental outcome at age 24 months in infants with TSC, as well as the effect on neurodevelopmental outcome of early versus conventional treatment of epileptic… read more here.
Keywords: tuberous sclerosis; autism driven; sclerosis complex; driven epilepsy ... See more keywords
Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2019 at "Autism Research"
DOI: 10.1002/aur.2193
Abstract: Tuberous sclerosis complex (TSC) is a rare genetic disorder that confers a high risk for autism spectrum disorders (ASD), with behavioral predictors of ASD emerging early in life. Deviations in structural and functional neural connectivity… read more here.
Keywords: infants tsc; tuberous sclerosis; autism; sclerosis complex ... See more keywords
Epidemiology and disease burden of tuberous sclerosis complex in France: A population‐based study based on national health insurance data
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12636
Abstract: Tuberous sclerosis complex (TSC) is a rare multisystem disorder, often associated with epilepsy. This retrospective study aimed to identify patients with TSC, including those with epilepsy, from a French healthcare claims database, and to report… read more here.
Keywords: epidemiology; epidemiology disease; study; tuberous sclerosis ... See more keywords
The state of pediatric tuberous sclerosis complex epilepsy care: Results from a national survey
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12652
Abstract: Epilepsy associated with tuberous sclerosis complex (TSC) can be challenging to treat and is associated with significant disease burden. Our objective was to better understand the state of epilepsy care of TSC amongst pediatric neurologists… read more here.
Keywords: state; epilepsy care; epilepsy; tuberous sclerosis ... See more keywords
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24454
Abstract: Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the… read more here.
Keywords: tuberous sclerosis; mosaicism tuberous; mosaicism; tsc1 tsc2 ... See more keywords
Chemical exchange saturation transfer imaging for epilepsy secondary to tuberous sclerosis complex at 3 T: Optimization and analysis
Sign Up to like & getrecommendations! Published in 2021 at "NMR in Biomedicine"
DOI: 10.1002/nbm.4563
Abstract: The homeostasis of various metabolites is impaired in epilepsy secondary to the tuberous sclerosis complex (TSC). Chemical exchange saturation transfer (CEST) imaging is an emerging molecular MRI technique that can detect various metabolites and proteins… read more here.
Keywords: tuberous sclerosis; sclerosis complex; analysis; epilepsy secondary ... See more keywords
MR findings of uterine PEComa in patients with tuberous sclerosis: report of two cases
Sign Up to like & getrecommendations! Published in 2019 at "Abdominal Radiology"
DOI: 10.1007/s00261-019-01918-3
Abstract: Tuberous sclerosis complex (TSC), a rare autosomal dominant neurocutaneous disorder, is characterized by the presence of benign congenital tumors in multiple organs. Neoplasms with perivascular epithelioid cell differentiation (PEComas), including angiomyolipoma (AML) and lymphangioleiomyomatosis (LAM),… read more here.
Keywords: tuberous sclerosis; findings uterine; pecoma patients; uterine pecoma ... See more keywords
A novel de novo TSC2 nonsense mutation detected in a pediatric patient with tuberous sclerosis complex
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04702-7
Abstract: Purpose Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems. The TSC1 and TSC2 genes have been identified as the genetic basis of TSC. Two gene tests… read more here.
Keywords: tuberous sclerosis; sclerosis complex; nonsense mutation; pediatric patient ... See more keywords
Everolimus as a possible prenatal treatment of in utero diagnosed subependymal lesions in tuberous sclerosis complex: a case report
Sign Up to like & getrecommendations! Published in 2021 at "Child's Nervous System"
DOI: 10.1007/s00381-021-05218-4
Abstract: The association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous sclerosis complex (TSC). Patients with TSC may have refractory seizures, autistic behavior, and cognitive decline. The patient received the fetal… read more here.
Keywords: tuberous sclerosis; sclerosis complex; subependymal lesions; treatment ... See more keywords