Results 121 to 130 of about 34,220 (292)

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris   +4 more
wiley   +1 more source

Primary Hepatic Neuroendocrine Tumor in a Patient With Tuberous Sclerosis

open access: yesAnnals of Internal Medicine: Clinical Cases
Tuberous sclerosis is a rare multisystemic disease with common benign manifestations. However, recent research suggests a rare association with malignant tumors.
Lindsey Farmer, Julie Rowe
doaj   +1 more source

Bidirectional sleep-seizure interactions and orexin in a mouse model of tuberous sclerosis complex-related epilepsy. [PDF]

open access: yesEpilepsia
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.
Rensing NR   +4 more
europepmc   +2 more sources

Fast sleep spindles as a potential prognostic marker of developmental outcome in infantile epileptic spasms syndrome

open access: yesEpilepsia Open, EarlyView.
Abstract Objective The presence or absence of sleep spindles in patients with infantile epileptic spasms syndrome (IESS) has been proposed as a potential predictor of cognitive outcome; however, the validity of this predictor remains uncertain.
Kento Ohta   +6 more
wiley   +1 more source

Research progress on the role of inflammatory mediators in the pathogenesis of epilepsy

open access: yesIbrain, Volume 11, Issue 1, Page 44-58, Spring 2025.
In the central nervous system, activated immune cells lead to the overproduction of inflammatory mediators through the corresponding signal pathway. Under the stimulation of inflammatory factors, neuroinflammation ultimately occurs. Overexpression of inflammatory mediators and activated immunocytes plays an important role in the emergence and ...
Yue Yu, Fei‐Ji Sun
wiley   +1 more source

Genetics of tuberous sclerosis complex: implications for clinical practice

open access: yes, 2016
Carolina Caban,1,2 Nubaira Khan,1,2 Daphne M Hasbani,3 Peter B Crino1,2 1Department of Neurology, 2Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, 3Department of Neurology, St. Christopher’s Hospital for ...
Hasbani DM, Crino PB, Khan N, Caban C
core  

Maternal influenza vaccination during pregnancy and risk of autism spectrum disorder in the offspring

open access: yesJCPP Advances, EarlyView.
Abstract Background Vaccination has been proposed as a potential risk factor for autism spectrum disorder (ASD), contributing to public hesitancy and mistrust toward immunization. Influenza vaccination during pregnancy is considered safe and effective in preventing serious maternal complications and adverse birth outcomes associated with influenza ...
Shahar Neeman   +4 more
wiley   +1 more source

Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate

open access: yesStem Cell Research & Therapy
Background Tuberous sclerosis complex is a genetic disorder caused by mutations in the TSC1 or TSC2 genes, affecting multiple systems. These genes produce proteins that regulate mTORC1 activity, essential for cell function and metabolism.
Shuang Wang   +7 more
doaj   +1 more source

Tuberous Sclerosis

open access: yesInternational Journal of Clinical Practice, 1963
I A, SALEEM, N H, WADIA, W D, SULAKHE
openaire   +2 more sources

Cerebellar involvement in tuberous sclerosis

open access: yes, 1998
Cerebellar involvement in tuberous sclerosis is apparently less than cerebral involvement. In this article, we report CT and MR imaging findings in four tuberous sclerosis patients with apparent cerebellar changes.
Sener, RN
core   +1 more source

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