Identifying Determinants for Neurobehavioral Morbidity in Tuberous Sclerosis Complex [PDF]
, 2013 Tuberous Sclerosis Complex (TSC) is a multisystem disorder characterized by the growth of hamartomas in multiple organ systems. The syndrome was described as early as 1835 by Rayer, and later by von Recklinghousen.
Eeghen, A.M. (Agnies) van
core
Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]
, 2018 High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo +5 more
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Long-Term Outcomes of Tuberous Sclerosis Complex-Associated Non-functional Pancreatic Neuroendocrine Tumors: Should We Be More Conservative? [PDF]
, 2023 Shahrzad Arya +10 more
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Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Stem Cell ResearchThe tuberous sclerosis complex 1 (TSC1) gene encodes for the growth inhibitory protein, hamartin, and has been clinically implicated in tuberous sclerosis complex (TSC) and associated epilepsy.
Shiwen Weng +4 more
doaj +1 more source
Corticostriatal Transmission Is Selectively Enhanced in Striatonigral Neurons with Postnatal Loss of Tsc1. [PDF]
, 2018 mTORC1 is a central signaling hub that integrates intra- and extracellular signals to regulate a variety of cellular metabolic processes. Mutations in regulators of mTORC1 lead to neurodevelopmental disorders associated with autism, which is ...
Bateup, Helen S +2 more
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The role of neurosurgery in the management of tuberous sclerosis complex–associated epilepsy: a systematic review [PDF]
, 2022 Jeffrey Z. Nie +4 more
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Fatty images of the heart: spectrum of normal and pathological findings at computed tomography and cardiac magnetic resonance imaging. [PDF]
, 2018 Ectopic cardiac fatty images are not rarely detected incidentally at computed tomography and cardiac magnetic resonance, either in exams focused on the heart as in general thoracic imaging evaluations.
Cannavale, Giuseppe +6 more
core +3 more sources
Recurrent symptomatic aortic aneurysm in a young girl with tuberous sclerosis complex and review of the literature [PDF]
, 2023 Ayman Alrazim +5 more
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Treatment of pediatric epilepsy
Pediatric Investigation, EarlyView.Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li +8 more
wiley +1 more source