Results 71 to 80 of about 31,123,995 (208)
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
Diagnosis of Tuberous Sclerosis Complex
, 2004 Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous sclerosis complex can be difficult in the young or in individuals with subtle findings.
Steven P. Sparagana, E. Steve Roach
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New insights into the "in vivo" and "in vitro" functions of mammalian TOR complex 2 [PDF]
, 2010 Target of rapamycin (TOR) is the main controller of cell growth and metabolism in response to nutrients, growth factors and the cellular energy status. TOR is a serine/threonine kinase conserved from yeast to mammals and is found in two functionally and
Cybulski, Nadine
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Architecture of the Tuberous Sclerosis protein complex [PDF]
, 2020 The Tuberous Sclerosis Complex (TSC) protein complex (TSCC), comprising TSC1, TSC2, and TBC1D7, is widely recognised as a key integration hub for cell growth and intracellular stress signals upstream of the mammalian target of rapamycin complex 1 (mTORC1)
Ramlaul, Kailash +8 more
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Physiological Reports, 2019 Resistance exercise (RE) activates the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway and increases muscle protein synthesis. Severe fasting induces 5′ adenosine monophosphate‐activated protein kinase (AMPK), which attenuates mTORC1
Kohei Sase +3 more
doaj +1 more source
GSK-3β at the Crossroads in Regulating Protein Synthesis and Lipid Deposition in Zebrafish
Cells, 2019 In this study, the mechanism by which GSK-3β regulates protein synthesis and lipid deposition was investigated in zebrafish (Danio rerio). The vector of pEGFP-N1-GSK-3β was constructed and injected into the muscle of zebrafish.
Yaqi Gu +6 more
doaj +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Epilepsia 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
The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity
Epilepsia Open, EarlyView.Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia +4 more
wiley +1 more source
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference [PDF]
, 2013 BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.
Kwiatkowski, David J. +78 more
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Epilepsia Open, EarlyView.Abstract Objective Epilepsy affects approximately 50 million people worldwide and, although primarily attributed to neuronal dysfunction, increasing evidence highlights a critical role of glial cells, particularly astrocytes, in the pathophysiological mechanisms.
Chiara Lötzsch +5 more
wiley +1 more source