p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation.

Genetic testing is crucial in inherited arrhythmogenic channelopathies; however, the clinical interpretation of genetic variants remains challenging. Incomplete penetrance, oligogenic, polygenic or multifactorial forms of channelopathies further complicate variant interpretation. We identified the /p.

Assessment of Classical and Non-Classical Quantitative Electroencephalographic Measures in Patients with Substance Use Disorders.

People diagnosed with substance use disorders (SUDs) are at risk for impairment of brain function and structure. However, physicians still do not have any clinical biomarker of brain impairment that helps diagnose or treat these patients when needed. The most common method to study these patients is the classical electroencephalographic (EEG) analyses of absolute and relative powers, but this has limited individual clinical applicability.

The role of acid sensing ion channels in the cardiovascular function.

Acid Sensing Ion Channels (ASIC) are proton sensors involved in several physiological and pathophysiological functions including synaptic plasticity, sensory systems and nociception. ASIC channels have been ubiquitously localized in neurons and play a role in their excitability. Information about ASIC channels in cardiomyocyte function is limited.

Musical tempo affects EEG spectral dynamics during subsequent time estimation.

The perception of time depends on the rhythmicity of internal and external synchronizers. One external synchronizer that affects time estimation is music. This study aimed to analyze the effects of musical tempi on EEG spectral dynamics during subsequent time estimation.

Yield of Sleep Deprivation EEG in Suspected Epilepsy. A Retrospective Study.

Sleep is an activation procedure and is considered the most potent and best-documented modulator of seizures and interictal epileptiform discharges (IEDs) on electroencephalogram (EEG). The precise role of sleep deprivation in the diagnostic process of epilepsy has not been fully clarified after more than 50 years of use. Sleep deprivation is a procedure that is accompanied by discomfort for patients and their families.

Assessment of Audio-Tactile Sensory Substitution Training in Participants with Profound Deafness Using the Event-Related Potential Technique.

This paper examines the application of electroencephalogram-based methods to assess the effects of audio-tactile substitution training in young, profoundly deaf (PD) participants, with the aim of analyzing the neural mechanisms associated with vibrotactile complex sound discrimination. Electrical brain activity reflects dynamic neural changes, and the temporal precision of event-related potentials (ERPs) has proven to be key in studying time-locked processes while performing behavioral tasks that involve attention and working memory. The current protocol was designed to study electrophysiological activity in PD subjects while they performed a continuous performance task (CPT) using complex-sound stimuli, consisting of five different animal sounds delivered through a portable stimulator system worn on the right index finger.

Emotional faces interfere with saccadic inhibition and attention re-orientation: An fMRI study.

Modulation of reflex responses is crucial to adapt our behavior and cognition, and this is especially difficult when biological relevant stimuli are present such as emotional faces. The aim of this study was to identify the effect of peripherally presented happy and angry facial expressions in reflexive saccades and saccadic inhibition/re-orientation of attention. Behavior through eye-tracking technique and fMRI event-related BOLD signals activations were evaluated in adult males during the performance of an antisaccade task.

Sex differences in cognitive processing: An integrative review of electrophysiological findings.

Sex differences in cognition and their underlying brain mechanisms have attracted increasing attention. Brain electrical activity (EEG) represents a reliable, high-temporal resolution approach to assessing the neural correlates of ongoing cognitive activity. The aim of the present work was to provide a comprehensive review of the literature regarding sex differences in brain electrical activity during cognitive processing, and their potential relation to behavioral performance.

Acceptability by End-users of a Standardized Structured Format for Reporting EEG.

The report of the electroencephalogram (EEG) results has traditionally been made using free-text formats with a huge variation in descriptions due to several factors. Recently, the International Federation of Clinical Neurophysiology (IFCN) endorsed the use of the Standardized Computer-based Organized Reporting of EEG (SCORE). This system has many advantages, but only some concerns have been investigated so far.

Type 1 diabetes affects the brain functional connectivity underlying working memory processing.

Visuospatial working memory (VSWM) deficits have been demonstrated to occur during the development of type-1-diabetes (T1D). Despite confirming the early appearance of distinct task-related brain activation patterns in T1D patients compared to healthy controls, the effect of VSWM load on functional brain connectivity during task performance is still unknown. Using electroencephalographic methods, the present study evaluated this topic in clinically well-controlled T1D young patients and healthy individuals, while they performed a VSWM task with different memory load levels during two main VSWM processing phases: encoding and maintenance.

The Differentiation Status of Hair Cells That Regenerate Naturally in the Vestibular Inner Ear of the Adult Mouse.

Aging, disease, and trauma can lead to loss of vestibular hair cells and permanent vestibular dysfunction. Previous work showed that, following acute destruction of ∼95% of vestibular hair cells in adult mice, ∼20% regenerate naturally (without exogenous factors) through supporting cell transdifferentiation. There is, however, no evidence for the recovery of vestibular function.

Quantitative EEG measures in profoundly deaf and normal hearing individuals while performing a vibrotactile temporal discrimination task.

Challenges in early oral language acquisition in profoundly deaf individuals have an impact on cognitive neurodevelopment. This has led to the exploration of alternative sound perception methods involving training of vibrotactile discrimination of sounds within the language spectrum. In particular, stimulus duration plays an important role in linguistic categorical perception.

Endothelial Dysfunction, Inflammation and Coronary Artery Disease: Potential Biomarkers and Promising Therapeutical Approaches.

Coronary artery disease (CAD) and its complications are the leading cause of death worldwide. Inflammatory activation and dysfunction of the endothelium are key events in the development and pathophysiology of atherosclerosis and are associated with an elevated risk of cardiovascular events. There is great interest to further understand the pathophysiologic mechanisms underlying endothelial dysfunction and atherosclerosis progression, and to identify novel biomarkers and therapeutic strategies to prevent endothelial dysfunction, atherosclerosis and to reduce the risk of developing CAD and its complications.

Compound Heterozygous Mutations Causing Recessive Romano-Ward Syndrome: Functional Characterization by Mutant Co-expression.

Next Generation Sequencing has identified many genetic variants associated with type 1 long QT or Romano-Ward syndrome, most frequently inherited in an autosomal dominant fashion, although recessive forms have been reported. Particularly in the case of missense variants, functional studies of mutants are of aid to establish variant pathogenicity and to understand the mechanistic basis of disease. Two compound heterozygous mutations (p.

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

Cholesterol homeostasis is essential in normal physiology of all cells. One of several proteins involved in cholesterol homeostasis is the ATP-binding cassette transporter A1 (ABCA1), a transmembrane protein widely expressed in many tissues. One of its main functions is the efflux of intracellular free cholesterol and phospholipids across the plasma membrane to combine with apolipoproteins, mainly apolipoprotein A-I (Apo A-I), forming nascent high-density lipoprotein-cholesterol (HDL-C) particles, the first step of reverse cholesterol transport (RCT).

Sustained attention in schoolchildren with type-1 diabetes. A quantitative EEG study.

Objective: Type-1 diabetes (T1D) is a disruptive metabolic disease that has an impact on neurodevelopment through its effects on the structure and function of the brain. One of the cognitive domains affected by T1D is sustained attention. The aim of this study was to analyze this process in children with T1D and compare their results to those of healthy controls.

A brain connectivity characterization of children with different levels of mathematical achievement based on graph metrics.

Recent studies aiming to facilitate mathematical skill development in primary school children have explored the electrophysiological characteristics associated with different levels of arithmetic achievement. The present work introduces an alternative EEG signal characterization using graph metrics and, based on such features, a classification analysis using a decision tree model. This proposal aims to identify group differences in brain connectivity networks with respect to mathematical skills in elementary school children.

Retinoic acid degradation shapes zonal development of vestibular organs and sensitivity to transient linear accelerations.

Each vestibular sensory epithelium in the inner ear is divided morphologically and physiologically into two zones, called the striola and extrastriola in otolith organ maculae, and the central and peripheral zones in semicircular canal cristae. We found that formation of striolar/central zones during embryogenesis requires Cytochrome P450 26b1 (Cyp26b1)-mediated degradation of retinoic acid (RA). In Cyp26b1 conditional knockout mice, formation of striolar/central zones is compromised, such that they resemble extrastriolar/peripheral zones in multiple features.

Emotional faces modulate eye movement control on an antisaccade task.

The ability to modulate automatic responses, in order to favor voluntary actions is crucial for cognition and behavior, and this is particularly difficult when dealing with highly salient stimuli as emotional faces. The aim of this study was to evaluate the effects of angry faces on cortical activity during preparation of saccadic inhibition and voluntary reorientation of attention. Behavioral performance, eye movements and presaccadic event-related potentials were evaluated as 30 participants performed an antisaccadic task with neutral and angry faces presented in the peripheral visual field.

Type-1 diabetes shapes working memory processing strategies.

Background: Type 1 diabetes (T1D) is a metabolic disorder characterized by recurrent hypo- and hyperglycemic episodes, whose clinical development has been associated with cognitive and working memory (WM) deficits.

Objective: To contrast quantitative electroencephalography (qEEG) measures between young patients with T1D and healthy controls while performing a visuospatial WM task with two memory load levels and facial emotional stimuli.

Methods: Four or five neutral or happy faces were sequentially and pseudo-randomly presented in different spatial locations, followed by subsequent sequences displaying the reversed spatial order or any other.

A step forward in the quest for a mobile EEG-designed epoch for psychophysiological studies.

The aim of this study was to compare a reconfigurable mobile electroencephalography (EEG) system (M-EMOTIV) based on the Emotiv Epoc® (which has the ability to record up to 14 electrode sites in the 10/20 International System) and a commercial, clinical-grade EEG system (Neuronic MEDICID-05®), and then validate the rationale and accuracy of recordings obtained with the prototype proposed. In this approach, an Emotiv Epoc® was modified to enable it to record in the parieto-central area. All subjects (15 healthy individuals) performed a visual oddball task while connected to both devices to obtain electrophysiological data and behavioral responses for comparative analysis.

Type 1 diabetes and working memory processing of emotional faces.

Several executive functions decline with the development of type-1 diabetes (T1D), particularly working memory (WM). In adults, WM ensures efficient cognitive processing by focusing on task-relevant information while suppressing distractors. It has been well documented that WM can be influenced by emotional stimuli, which may facilitate the retention of information, interfere with uptake, or even affect its capacity.

Complex systems representing effective connectivity in patients with Type One diabetes mellitus.

Background: Type 1 diabetes mellitus (T1D) affects the entire cellular network of the organism. Some patients develop cognitive disturbances due to the disease, but several authors have suggested that the brain develops compensatory mechanisms to minimize or prevent neuropsychological decline. The present study aimed to assess the effective connectivity underlying visuospatial working memory performance in young adults diagnosed with T1D using neuroimaging techniques (fMRI).

Dataset on the EEG time-frequency representation in children with different levels of mathematical achievement.

This article presents the data related to the research paper entitled "The analysis of EEG coherence reflects middle childhood differences in mathematical achievement" (González-Garrido et al., 2018). The dataset is derived from the electroencephalographic (EEG) records registered from a total of 60 8-9-years-old children with different math skill levels (High: HA, Average: AA, and Low Achievement: LA) while performing a symbolic magnitude comparison task.