A5037746759- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Neuroendocrine regulation and behavior
- Genomics and Rare Diseases
- Neurofibromatosis and Schwannoma Cases
- Advanced Neuroimaging Techniques and Applications
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Autoimmune Neurological Disorders and Treatments
- Memory and Neural Mechanisms
- Neuroblastoma Research and Treatments
- Radiomics and Machine Learning in Medical Imaging
- Advanced MRI Techniques and Applications
- Pharmaceutical studies and practices
- Neuroscience of respiration and sleep
- Neural dynamics and brain function
- Neurogenetic and Muscular Disorders Research
- Stress Responses and Cortisol
- Fetal and Pediatric Neurological Disorders
- Neuroscience and Neural Engineering
- Neonatal and fetal brain pathology
- EEG and Brain-Computer Interfaces
- BRCA gene mutations in cancer
University of North Carolina at Chapel Hill
2004-2019
Queensland University of Technology
2019
University of Nebraska Medical Center
2019
University of Pavia
2019
Middle East Technical University
2019
Stanford University
2018
The Ohio State University Wexner Medical Center
2018
Renaissance Computing Institute
2018
University of Colorado Denver
2018
Duke University
2018
<h3>Importance</h3> Efficacy of cannabidiol has been demonstrated in seizures associated with Lennox-Gastaut and Dravet syndromes but appears not yet to have established conditions primarily focal seizures, such as tuberous sclerosis complex (TSC). <h3>Objective</h3> To evaluate efficacy safety 25-mg/kg/day 50-mg/kg/day dosages vs placebo against TSC. <h3>Design, Setting, Participants</h3> This double-blind, placebo-controlled randomized clinical trial (GWPCARE6) enrolled patients between...
Abstract The distribution of cholecystokininlike (CCK‐L) immunoreactive cells and fibers in the rat hippocampal formation its afferent efferent connections was studied using immunoperoxidase technique. In CCK‐L perikarya were located polymorphic zone dentate hilus, all layers Ammon's horn, subiculum, presubiculum, entorhinal cortex. Cholecystokininlike extended from cell bodies or around cortex, subiculum stratum pyramidale among granule inner molecular layer gyrus. oriens may be a type...
Although several recent anatomical and physiological studies indicate that glutamate receptors are likely to play a role in the regulation of various hypothalamic functions, no attempt has yet been made specifically characterize receptor densities, subtypes, or localization hypothalamus. To provide this basic information, we have characterized mapped binding [3H]glutamate N-methyl-D-aspartate (NMDA), non-NMDA, metabotropic throughout diencephalon. Membrane assays revealed density 2.6 pmol/mg...
We report 281 individuals carrying a pathogenic recurrent NF1 missense variant at p.Met1149, p.Arg1276, or p.Lys1423, representing three nontruncating hotspots in the University of Alabama Birmingham (UAB) cohort, together identified 1.8% unrelated individuals. About 25% (95% confidence interval: 20.5–31.2%) heterozygous for p.Lys1423 had Noonan-like phenotype, which is significantly more compared with "classic" NF1-affected cohorts (all p < .0001). Furthermore, p.Arg1276 and variants were...
PurposeNeurofibromatosis type 1 (NF1) is characterized by a highly variable clinical presentation, but almost all NF1-affected adults present with cutaneous and/or subcutaneous neurofibromas. Exceptions are individuals heterozygous for the NF1 in-frame deletion, c.2970_2972del (p.Met992del), associated mild phenotype without any externally visible tumors.MethodsA total of 135 from 103 unrelated families, carrying constitutional p.Met992del pathogenic variant and clinically assessed using...
In November 1996, a panel of pediatric neurologists met to update the consensus statement issued in 1989 by and metabolic experts on L-carnitine supplementation childhood epilepsy. The panelists agreed that intravenous is clearly indicated for valproate (VPA)-induced hepatotoxicity, overdose, other acute crises associated with carnitine deficiency. Oral primary plasmalemmal transporter defect. concurred oral strongly suggested following groups as well: patients certain secondary...
The optimal regimen for discontinuing antiepileptic medications in children with epilepsy is unknown.
To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).We performed exome 93 undiagnosed various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted broad gene lists were identified. Prior tests extracted from patient's medical record to use context their prior workup.The overall our cohort 12.9%, one or more pathogenic likely variants identified causative associated disorder. Targeted had...
Campbell, Eldridge M.D.; Whitfield, Robert D. Greenwood, Lt. Col., M.C. Author Information
Volumes of cerebral gray and white matter were measured in 22 children with neurofibromatosis type 1 (NF1) 20 controls. Judgment Line Orientation (JLO) the Developmental Test Visual-Motor Integration (DTVMI) administered to 16 NF1 patients. General linear models analysis covariance revealed significantly larger brain volumes than controls, particularly matter, girls. JLO DTVMI performance positively related right-hemisphere gray-matter volume. The results implicate a failure growth control...
Background: Larger gray matter (GM) volume in healthy children is correlated with higher IQ.Children neurofibromatosis type 1 (NF1) have larger brains, their magnetic resonance images frequently show T2-weighted hyperintensities, and IQs are lower.Objectives: To confirm the hypotheses that (1) NF1 GM white volumes, (2) greatest differences frontal parietal regions (3) inversely related to IQ NF1.Design: Wechsler Intelligence Scale for Children-Third Edition testing measurement of cerebral...
Summary: : Because under certain conditions, seizure activity electrically elicited from layers III and IV of the inferior collicular cortex can spread into forebrain regions, potential interactions with amygdala were studied. Following acute electrical initiation colliculus, no changes in EEG noted. repetitive stimulation however, postictal spiking was noted amygdala, similar to interictal reported for kindling, but this abnormal did not coincide any observable behavioral change....
PURPOSE: To describe the changes in brain water diffusibility five anatomic locations children with neurofibromatosis type 1 (NF 1) compared these control subjects and to associated hyperintense basal ganglia lesions NF 1. MATERIALS AND METHODS: Twenty highly related pairs of consisting one child unaffected were examined. Prospective comparisons isotropic apparent diffusion coefficient (ADC) values at performed, without T2-hyperintense included. Retrospective analysis globus pallidus 16...
Vasopressin neuroendocrine function involves the regulation of both secretion and synthesis from magnocellular cells but coordination these two processes is poorly understood. To explore temporal relationship between physiological stimulation vasopressin mRNA levels we measured content within individual neurons supraoptic paraventricular nucleus during course water deprivation. Analysis autora-diographic silver grain densities in situ hybridization an [125I]dCTP-labeled oligonucleotide...
Background Phenytoin, a cytochrome P450 (CYP) 2C9 substrate, has narrow therapeutic index and nonlinear pharmacokinetics. Therefore there is the potential for significant concentration‐related adverse effects when phenytoin coadministered with other CYP2C9 substrates. Losartan, an antihypertensive agent, also substrate CYP2C9. Objective Our objective was to assess of losartan on pharmacokinetics in healthy population volunteers. Methods A prospective, randomized, 3‐period crossover study...