Results 71 to 80 of about 28,298 (249)
SAGE Open Medical Case ReportsTuberous sclerosis is an uncommon neurocutaneous syndrome characterized by hamartomatous growths with unpredictable progression. Diagnosing and managing neonatal tuberous sclerosis can be challenging.
Susmin Karki +7 more
doaj +1 more source
Recent advances in the management of lymphangioleiomyomatosis [version 1; referees: 4 approved]
F1000Research, 2018 Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment.
Kai-Feng Xu, Xinlun Tian, Jay H Ryu
doaj +1 more source
Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Epilepsia, EarlyView.Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen +12 more
wiley +1 more source
Clinical Case ReportsTuberous sclerosis complex (TSC) is a rare multisystem genetic disorder characterized by benign hamartomas in multiple organs. Although renal manifestations such as angiomyolipomas and cysts are common, the occurrence of renal cell carcinoma (RCC) in ...
Sunil Jaiswal +5 more
doaj +1 more source
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex
Epilepsia, EarlyView.Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo +4 more
wiley +1 more source
Conjunctival lymphangioma in a 4-year-old girl revealed tuberous sclerosis complex
GMS Ophthalmology Cases, 2016 Background: To present a case of conjunctival lymphangioma in a girl with tuberous sclerosis complex.Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like ...
Freiberg, Florentina Joyce +4 more
doaj +1 more source
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
Unusual adult-onset cardiac rhabdomyomas in tuberous sclerosis complex: a case report
Frontiers in MedicineBackgroundTuberous sclerosis complex is a genetic neurocutaneous autosomal dominant syndrome, characterized by the development of multiple benign tumors (hamartomas) affecting various systems.
H. A. Nati-Castillo +5 more
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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
wiley +1 more source
Challenges in the management of a case of tuberous sclerosis
Industrial Psychiatry Journal, 2012 Tuberous sclerosis complex is a multi-system disorder with autosomal dominant inheritance, which can affect the brain, heart, skin, kidneys, lungs, and retina.
Anubhav Rathi +2 more
doaj +1 more source