Results 61 to 70 of about 5,403,298 (185)
Multiple pulmonary artery aneurysms in tuberous sclerosis complex.
, 2013 Tuberous sclerosis complex (TSC) is a rare genetic disorder characterised by multiple hamartomas, caused by inactivating mutations of the TSC1/TSC2 tumour suppressor genes.
Qanadli, S.D. +3 more
core +1 more source
Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future
Epilepsia Open, EarlyView.Abstract Electroencephalography (EEG) has evolved into an indispensable tool in pediatric epilepsy, fundamentally transforming the diagnosis, classification, and management of this condition. This review chronicles the historical journey of EEG from its groundbreaking inception to its current pivotal role in delineating distinct pediatric epilepsy ...
Hiroki Nariai
wiley +1 more source
Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives
, 2019 Tuberous sclerosis complex (TSC) is a complex, multi-system disorder with a well-described underlying genetic etiology. While retinal findings are common in TSC and important in establishing the diagnosis, TSC also has many potential neuro-ophthalmology ...
Lo Chan, Ka +3 more
core +1 more source
The genomic landscape of tuberous sclerosis complex
Nature Communications, 2017 Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem tumour growth. Here the authors analyse 111 TSC-associated tissues for TSC1/TSC2 status, DNA mutations, copy number aberrations, differential gene expression and DNA ...
Katie R. Martin +17 more
doaj +1 more source
Diffusion Tensor Imaging of Epileptogenic Lesions in TSC
Pediatric Neurology Briefs, 2016 Investigators from University of California Los Angeles, studied whether epileptogenic tubers in Tuberous Sclerosis Complex (TSC) can be identified by diffusion tensor imaging (DTI).
Divakar Mithal, Maura Ryan
doaj +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia Open, EarlyView.Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Treatment effect of mTOR-inhibition on tissue composition of renal angiomyolipomas in tuberous sclerosis complex (TSC). [PDF]
, 2017 Tuberous sclerosis complex (TSC)-associated renal angiomyolipoma (AML) have a high lifetime risk of acute bleeding. MTOR-inhibitors are a promising novel treatment for TSC-AML, however adequate response to therapy can be difficult to assess.
Lars Vogt +7 more
core +1 more source
Utility of repeat stereotactic EEG in pediatric patients with tuberous sclerosis
Epilepsia Open, EarlyView.Abstract Objective Tuberous sclerosis complex (TSC) is a rare genetic disorder associated with early‐onset drug‐resistant epilepsy (DRE) secondary to intracranial tubers. Many patients undergo stereo‐EEG (sEEG) for seizure onset localization, sometimes requiring multiple sEEGs and subsequent epilepsy surgeries. Our objective was to evaluate the effects
Julie Uchitel +14 more
wiley +1 more source
Mosaicism in Tuberous Sclerosis Complex
, 1999 Six families with mosaicism in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2, are reported from the Erasmus University and Hospital, Rotterdam, The ...
J Gordon Millichap
core +1 more source
Notch transactivates Rheb to maintain the multipotency of TSC-null cells
Nature Communications, 2017 Tuberous sclerosis complex (TSC) is a rare genetic condition causing tumours with differentiation abnormalities; however the molecular mechanisms causing these defects are unclear.
Jun-Hung Cho +16 more
doaj +1 more source