Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Social Cognitive Skills in Electric Vehicle Sales: Understanding Empathy, Trust, and Decision-Making in Sustainable Mobility Markets. [PDF]
Behav Sci (Basel)Escobar-Miranda S +1 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To clarify the clinical relevance of dopamine transporter single‐photon emission computed tomography (DAT‐SPECT) abnormalities in amyotrophic lateral sclerosis (ALS), with a prespecified focus on sex‐stratified associations with disease progression and short‐term prognosis.
Tomoya Kawazoe +7 more
wiley +1 more source
Correction: Retraining dorsal visual pathways improves cognitive skills and executive control networks following mild traumatic brain injury. [PDF]
Front Hum NeurosciFrontiers Production Office.
europepmc +1 more source
Early Recognition of Treatment‐Responsive Rapidly Progressive Dementia: The Modified STAM3mP Score
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Early identification of patients with treatment‐responsive rapidly progressive dementia (RPD) is important as early treatment improves outcomes. The STAM3P score identifies treatment‐responsive RPD using “high risk” presenting features. We optimized performance by adding a time component (i.e., dementia within 3 months) and validated the ...
R. W. van Steenhoven +16 more
wiley +1 more source
Perceptual-cognitive skills and talent development environments in soccer: A scoping review. [PDF]
PLoS OneTriggs AO +3 more
europepmc +1 more source
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
Early Childhood Education and Care Enhances Cognitive Performance in Later Adolescence Through Non-Cognitive Skills Development and Reduced Truancy. [PDF]
J IntellLiu J, Aziku M, Tahri D.
europepmc +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 +8 more
wiley +1 more source
Mental and physical fatigue altered working memory consolidation and impaired gaze behavior and perceptual-cognitive skills using video-based and real-situation. [PDF]
Sci RepFarahani FK +5 more
europepmc +1 more source