Results 81 to 90 of about 319,311 (316)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

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

Investigations in West Syndrome: Which, When and Why

Pediatric Neurology Briefs, 2015
Investigators from the National Infantile Spasms Consortium (NISC) in the USA studied the etiology of new-onset infantile spasms (IS) in 251 infants (mean age at onset, 7.1, range, 0.1-22.7 months).
Richard E Appleton
doaj   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Imaging haemodynamic changes related to seizures: comparison of EEG-based general linear model, independent component analysis of fMRI and intracranial EEG

, 2010
Background: Simultaneous EEG-fMRI can reveal haemodynamic changes associated with epileptic activity which may contribute to understanding seizure onset and propagation. Methods: Nine of 83 patients with focal epilepsy undergoing pre-surgical evaluation
Laufs, H., Lhatoo, S., Guye, M., Rodionov, R., McEvoy, A., Carmichael, D., Thornton, R.C., Vulliemoz, S., Cannadathu, S., Vaudano, A.   +9 more
core  

How Relevant Are Non-Use Values and Perceptions in Economic Valuations? The Case of Hydropower Plants

Energies, 2019
The construction of hydropower plants, particularly of large ones, is far from being a consensual decision: advocates defend their construction based on the unquestionable benefits hydropower provides, while critics argue that these facilities are far ...
Sara Sousa, Anabela Botelho, Lígia M. Costa Pinto, Marieta Valente   +3 more
doaj   +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

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

Emotion classification in Parkinson's disease by higher-order spectra and power spectrum features using EEG signals: A comparative study [PDF]

, 2014
Deficits in the ability to process emotions characterize several neuropsychiatric disorders and are traits of Parkinson's disease (PD), and there is need for a method of quantifying emotion, which is currently performed by clinical diagnosis ...
Mohamad, Khairiyah, Yuvaraj, Rajamanickam, Ibrahim, Norlinah Mohamed, Omar, Mohd Iqbal, Murugappan, Murugappan, Sundaraj, Kenneth, Satiyan, Marimuthu, Palaniappan, Ramaswamy   +7 more
core   +1 more source

Atomic Layer Deposition Processes: Versatile Platforms for Engineering ZnO‐Chitosan Biointerfaces

Advanced Healthcare Materials, EarlyView.
Vapour phase metalation (VPM), multiplied pulsed vapour phase infiltration (MPI), and O2 plasma‑enhanced atomic layer deposition (PEALD) tailor Zn–chitosan (Zn‑CS) films. PEALD improves wettability and biocompatibility. MPI enhances semiconductor behavior. Antiseptic selectivity: VPM → E. coli; MPI → H. pylori.
Mabel Moreno, Anjana Devi, David Zanders, Miryam Arredondo, Davide Mariotti, Ruairi McGlynn, Sindy Devis, Simón Guerrero, Eglantina Benavente, Matias Alegría, Yusser Olguin, Lorena Lobos‐Gonzalez, Kevin Guzmán, Elizabeth Rivas‐Yañez, Paula Solar, Valentin Cepus, Michael Krause, Luis Velásquez   +17 more
wiley   +1 more source