Results 81 to 90 of about 347,356 (359)
Asian Journal of Medical Sciences, 2015 Tuberous sclerosis complex is rare neurocutaneous syndrome involving central nervous system and lesions in skin. Tuberous sclerosis with multifocal angiomyolipoma involving kidney and lymph nodes is even rarer.
Prasad Mylarappa
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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
Orphanet Journal of Rare Diseases, 2017 BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation.
J. Kingswood +28 more
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Seminars in epileptology: How to diagnose status epilepticus in adults and children
Epileptic Disorders, EarlyView.Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger +12 more
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Clinical case of manifestation of tuberous sclerosis in a child
Zdorovʹe Rebenka, 2021 We have provided information about prevalence, etiology and pathogenesis of the tuberous sclerosis complex, a rare hereditary disease, caused by genetic mutation in TSC1 and TSC2 genes.
Yu.A. Chornyi +4 more
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Parental Understanding of Tuberous Sclerosis Complex [PDF]
, 2014 Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Donald, Kirsten A. +3 more
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Molecular Genetics & Genomic MedicineTuberous sclerosis complex (TSC) is a variable multisystem disorder. The “no mutations identified” (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by ...
Clara W. T. Chung +8 more
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Epilepsy syndromes classification
Epilepsia Open, EarlyView.Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell +4 more
wiley +1 more source
New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
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Cardiac Rhabdomyomas and Congenital Hypothyroidism: A Coincidence or Hamartia [PDF]
Journal of Cardio-Thoracic Medicine, 2015 Cardiac rhabdomyomas are the most common primary cardiac tumors in children. These tumors are generally asymptomatic, although they may be associated with neonatal tuberous sclerosis complex.
Anand Agarwal
doaj
Tuberous sclerosis associated with multiple hepatic lipomatous tumours [PDF]
, 2016 Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including brain, heart, skin, eyes, kidney, lung and liver.
Calleja Stafrace, Damien, Vella, Cecil
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