Results 91 to 100 of about 5,402,382 (253)
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source
Mouse Models of Tuberous Sclerosis Complex
, 2004 The most devastating complications of tuberous sclerosis complex affect the central nervous system and include epilepsy, mental retardation, autism, and glial tumors.
Danielle K. Scheidenhelm +1 more
core +1 more source
Tuberous Sclerosis Complex: A Roadmap for Future Research
Pediatric Neurology Briefs, 2016 Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state ...
Anna Jeong
doaj +1 more source
Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery
Epilepsia Open, EarlyView.Abstract Objective Advances in the analysis and collation of radiographic datasets have enhanced presurgical planning for various neurosurgical procedures, including clipping of cerebral aneurysms, surgical resection of tumors, and arteriovenous malformation management.
Lisa B. E. Shields +4 more
wiley +1 more source
, 2004 The co-occurrence of autism spectrum disorder and tuberous sclerosis complex has been recognized for decades. The prevalence of tuberous sclerosis complex in the autism spectrum disorder population is 1 to 4%, whereas features of autism spectrum ...
Max Wiznitzer
core +1 more source
Frontiers in Cell and Developmental BiologyBackgroundTuberous sclerosis is a multi-system disorder caused by mutations in either TSC1 or TSC2. The majority of affected patients (85%–90%) have heterozygous variants, and a smaller number (around 5%) have mosaic variants.
Jing Duan +10 more
doaj +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
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
Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 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