Results 41 to 50 of about 235,104 (268)

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Paediatric HIV encephalopathy in sub-Saharan Africa

, 2010
Background: HIV/AIDS continues to be one of the greatest health challenges which sub-Saharan Africa faces. HIV is known to invade the central nervous system at the time of infection, and causes widespread damage.
Stewart, A., Hilburn, N., Potterton, J.
core   +1 more source

Xenogeneic, extracorporeal liver perfusion in primates improves the ratio of branched-chain amino acids to aromatic amino acids (Fischer's ratio) [PDF]

, 1999
In fulminant hepatic failure (FHF), the development of hepatic encephalopathy is associated with grossly abnormal concentrations of plasma amino acids (PAA).
Puhl, G., Neuhaus, P., Schön, M. R., Hammer, C., Matthes, M., Heil, W., Lemmens, H.-P., Padval, D.   +7 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Resting state cortical electroencephalographic rhythms in covert hepatic encephalopathy and Alzheimer's disease [PDF]

, 2013
Patients suffering from prodromal (i.e., amnestic mild cognitive impairment, aMCI) and overt Alzheimer's disease (AD) show abnormal cortical sources of resting state electroencephalographic (EEG) rhythms.
Nicola Marzano, Lizio, Roberta, Giovanni B. Frisoni, Serviddio, Gaetano, Vecchio F, Chini G, Piero Amodio, Frisoni GB, P. M. Rossini, Schiff S, Babiloni C, F. Vecchio, Frisoni, Giovanni B., Amodio P., Paolo M. Rossini, A. Soricelli, Serviddio G, G. B. Frisoni, C. Del Percio, Babiloni, Claudio, Chini, Giorgia, Del Percio C, Soricelli, Andrea, Marzano N, P. Amodio, Rossini, Paolo Maria, Lizio R, Roberta Lizio, Sami Schiff, Montagnese, Sara, S. Montagnese, S. Schiff, Fabrizio Vecchio, Rossini PM, Schiff, Sami, Soricelli A, Vecchio, Fabrizio, Marzano, Nicola, Del Percio, Claudio, Claudio Del Percio, G. Chini, Rossini, Paolo M., G. Serviddio, Andrea Soricelli, N. Marzano, Gaetano Serviddio, Sara Montagnese, Amodio, Piero, Claudio Babiloni, Giorgia Chini, Montagnese S   +50 more
core   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Quantitative MRI Uncovers Subtle Cortical Damage in Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether myelin‐sensitive quantitative MRI reveals microstructural abnormalities in normal‐appearing cortex (NACtx) in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), indicating that conventional MRI underestimates remission residual cortical injury.
Valentina Camera, Agnese Tamanti, Silvia Messina, Nicola Dall'Osto, Teresa Maltempo, Stefano Ziccardi, Matteo Foschi, Maria Grazia Piscaglia, Diana Ferraro, Francesco Crescenzo, Francesca Rossi, Albulena Bajrami, Sabrina Marangoni, Damiano Marastoni, Francesca Benedetta Pizzini, Maria Isabel Leite, Roberta Magliozzi, Patrick Waters, Massimiliano Calabrese, Jacqueline Palace, Ruth Geraldes   +20 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Astaxanthin improve the intestinal microbiota and metabolism after ischemic stroke

Scientific Reports
As a prevalent cerebrovascular disorder, the association between ischemic stroke and gut microbiota has garnered increasing attention. Recent studies have confirmed that astaxanthin exhibits significant protective effects against ischemic stroke. However,
Chunshu Rong, Zhen Wei, Jinjian Li, Wei He, Haoxu Ren, Xu Wang, Dexi Zhao   +6 more
doaj   +1 more source