Results 101 to 110 of about 43,008 (246)
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
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
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
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
Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]
, 2017 Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
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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
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
Synaptic Wnt/GSK3β Signaling Hub in Autism [PDF]
, 2016 Indexación: ScopusHundreds of genes have been associated with autism spectrum disorders (ASDs) and the interaction of weak and de novo variants derive from distinct autistic phenotypes thus making up the "spectrum." The convergence of these variants in ...
Avila, M.E. +2 more
core +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
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
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