Results 91 to 100 of about 50,774 (290)
Tuberous Sclerosis: An Overview of All Aspects of the Disease Based On a Pediatric Case [PDF]
Iranian Journal of Neurosurgery, 2022 Background and Importance:Tuberous sclerosis, also known as Bourneville's disease is a rare autosomal dominant disease affecting multiple systems. In this case report, we emphasize the importance of clinical criteria instead of genetic analysis in ...
Tamajyoti Ghosh, Binoy Binoy K Singh
doaj
Everolimus safety and efficacy for renal angiomyolipomas associated with tuberous sclerosis complex: A Spanish expanded access trial [PDF]
, 2016 Background: Renal angiomyolipomas (AML) are usual manifestations of tuberous sclerosis complex (TSC) that may cause aneurism-related haemorrhages and renal impairment. Everolimus has emerged as an alternative to surgery/embolization.
Anido, Urbano +13 more
core +4 more sources
Epilepsia, EarlyView.Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing +4 more
wiley +1 more source
Clinical molecular genetics in the UK c.1975-c.2000 [PDF]
, 2014 seminar transcriptChaired by Professor Martin Bobrow and introduced by Professor Bob Williamson, this Witness Seminar included geneticists from a broad range of research and clinical specialities.
Jones, EM, Tansey, EM
core
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
Epilepsia, EarlyView.Abstract Objective Drug‐resistant epilepsy (DRE) affects approximately one‐third of patients with epilepsy. The molecular heterogeneity underlying DRE remains poorly defined, largely due to limited access to resected brain tissue and substantial genetic diversity.
Yanping Weng +11 more
wiley +1 more source
Case Reports in Neurological MedicineTuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes.
Keval Thakkar +11 more
doaj +1 more source
Management of everolimus-associated adverse events in patients with tuberous sclerosis complex: a practical guide [PDF]
, 2017 Tuberous sclerosis complex (TSC) is a genetic disorder characterised by highly variable comorbid dysfunction and subsequent morbidity. The mTOR inhibitor everolimus is indicated for the treatment of adult TSC patients with renal angiomyolipomas (AMLs ...
Davies, Mark +2 more
core +3 more sources
A. C. Boudewijn Peters (1941–2026)
Annals of the Child Neurology Society, EarlyView.
Jurriaan M. Peters, Oebo F. Brouwer
wiley +1 more source
Epilepsia, EarlyView.Graphical abstract for the systematic literature review. Abstract Objective Dravet syndrome (DS) places tremendous burden on caregivers owing to the extent of required assistance and impact on daily living, as well as the risk to the individual with DS of premature mortality from sudden unexpected death in epilepsy and morbidity associated with ...
Adam Strzelczyk +8 more
wiley +1 more source