Results 71 to 80 of about 36,256,275 (202)

Early autism symptoms in infants with tuberous sclerosis complex [PDF]

, 2017
Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age.
Shafali S. Jeste, Nicole M. McDonald, Kandice J. Varcin, Bhatt, Rujuta, Sahin, M, Mustafa Sahin, Charles A. Nelson, Varcin, KJ, McDonald, Nicole M, Sahin, Mustafa, Bhatt, R, Varcin, Kandice J, Joyce Y. Wu, McDonald, NM, Jeste, Shafali S, Nelson, CA, Rujuta Bhatt, Nelson, Charles A, Wu, JY, Jeste, SS, Wu, Joyce Y   +20 more
core   +1 more source

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

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, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Porcine Circovirus Type 2 Activates CaMMKβ to Initiate Autophagy in PK-15 Cells by Increasing Cytosolic Calcium

Viruses, 2016
Porcine circovirus type 2 (PCV2) induces autophagy via the 5′ adenosine monophosphate-activated protein kinase (AMPK)/extracellular signal-regulated kinase (ERK)/tuberous sclerosis complex 2 (TSC2)/mammalian target of rapamycin (mTOR) pathway in pig ...
Yuanxing Gu, Baozhu Qi, Yingshan Zhou, Xiaowu Jiang, Xian Zhang, Xiaoliang Li, Weihuan Fang   +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, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options [PDF]

, 2014
Shelly Wang,1 Aria Fallah2,3 1Department of Neurosurgery, University of Toronto, Toronto, ON, Canada; 2Department of Neurosurgery, Miami Children’s Hospital, Miami, FL, USA; 3Department of Clinical Epidemiology and Biostatistics, McMaster ...
Wang, Shelly, Wang S, Fallah, Aria, Fallah A   +3 more
core   +1 more source

Atypical Extraventricular Cystic Subependymal Giant Cell Astrocytoma in a Child Who Did Not Fulfil Clinical Criteria for Tuberous Sclerosis Complex: A Diagnostic Pitfall—A Case Report

Düzce Tıp Fakültesi Dergisi
Subependymal giant cell astrocytoma (SEGA) usually arises near the foramen of Monro in patients with tuberous sclerosis complex (TSC). A 14-year-old boy presented with headache and a 6.2 × 5.8 cm extraventricular, cyst-dominant hemispheric lesion ...
Mustafa Kaya, Muhammed Ömer Bakaç, Çağla Özdemir, Fahri Yılmaz   +3 more
doaj   +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, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

Expression of ICAM-1, TNF-α, NFκB, and MAP kinase in tubers of the tuberous sclerosis complex

Neurobiology of Disease, 2003
Individuals affected with tuberous sclerosis complex (TSC) develop cortical tubers characterized by disorganized cytoarchitecture and morphologically abnormal cell types, such as dysplastic neurons (DNs) and giant cells (GCs).
Michelle Maldonado, B.S., Marianna Baybis, M.A., David Newman, Dennis L Kolson, M.D., Ph.D., Wei Chen, Ph.D., Guy McKhann, II, David H Gutmann, M.D., Ph.D., Peter B Crino, M.D., Ph.D.   +7 more
doaj   +1 more source

Astrocyte subtype‐specific alterations in the dentate gyrus of individuals with mesial temporal lobe epilepsy

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, Jakob Johann Schmidt, Daniel Delev, Roland Coras, Ingmar Blümcke, Ruth Beckervordersandforth   +5 more
wiley   +1 more source

Investigation of the effects of different mTOR inhibitors on protein synthesis

, 2011
The mammalian target of rapamycin (mTOR), which controls diverse cellular processes, is regulated by the integration of many signals. Rapamycin strongly inhibits the proliferation of many cancer cell lines and there is a high level of interest in its ...
Huo, Yilin
core   +1 more source