Results 101 to 110 of about 29,392 (272)

Autism and Tuberous Sclerosis

open access: yes, 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

New insights into epileptic spasm generation and treatment from the TTX animal model

open access: yesEpilepsia 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

Establishment of a human induced pluripotent stem cell (iPSC) line from a patient harboring a TSC1 gene mutation

open access: yesStem Cell Research
The 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

Non-Neurologic Manifestations of Tuberous Sclerosis Complex

open access: yes, 2004
Tuberous sclerosis complex is a heterogeneous genetic disorder affecting multiple organ systems at various points throughout the lifespan. Increasingly, neurologically asymptomatic adults are being diagnosed with tuberous sclerosis complex through renal
David Neal Franz
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

open access: yesEpilepsia 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

Novel planning pipeline utilizing the Surgical Theater system for pediatric epilepsy surgery

open access: yesEpilepsia 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

Bilateral Renal Angiomyolipomas with Invasion of the Renal Vein: A Case Report

open access: yesThe Scientific World Journal, 2008
An angiomyolipoma (AML) is usually a benign, rare, and, more commonly, a unilateral renal tumour. Bilateral tumours are very rare, particularly in the absence of tuberous sclerosis complex.
C. Blick   +3 more
doaj   +1 more source

Frontiers in EEG as a tool for the management of pediatric epilepsy: Past, present, and future

open access: yesEpilepsia 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

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

open access: yesEpilepsia 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

The multiple hit model of infantile and epileptic spasms: The 2025 update

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou   +6 more
wiley   +1 more source

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