Clinical phenotype and functional influence of GRIN2A variants in epilepsy-aphasia syndrome.

Objective: N-methyl-D-aspartate receptors are glutamate-gated ion channels that play a crucial role in brain function. Numerous inherited or de novo variants in the GRIN2A gene, encoding the GluN2A subunit of the receptor, have been identified in patients with epilepsy. In addition, it is worth noting that GRIN2A variants exhibit a strong correlation with epilepsy-aphasia syndromes, a group of age-dependent epileptic, cognitive, and language disorders with a characteristic electroencephalographic pattern.

HDAC3 integrates TGF-β and microbial cues to program tuft cell biogenesis and diurnal rhythms in mucosal immune surveillance.

The intestinal mucosal surface is directly exposed to daily fluctuations in food and microbes driven by 24-hour light and feeding cycles. Intestinal epithelial tuft cells are key sentinels that surveil the gut luminal environment, but how these cells are diurnally programmed remains unknown. Here, we show that histone deacetylase 3 (HDAC3) controls tuft cell specification and the diurnal rhythm of its biogenesis, which is regulated by the gut microbiota and feeding schedule.

Repeated long sessions of transcranial direct current stimulation reduces seizure frequency in patients with refractory focal epilepsy: An open-label extension study.

Objective: Although clinical trials have demonstrated that cathodal transcranial direct current stimulation (tDCS) is effective for seizure reduction, its long-term efficacy is unknown. This study aimed to determine the long-term effects of repeated cathodal long tDCS sessions on seizure suppression in patients with refractory epilepsy.

Methods: Patients were recruited to participate in an extended phase of a previous randomized, double-blind, sham-controlled, three-arm, parallel, multicenter study on tDCS.

-Related Epilepsy: Novel Mutations and Rare Phenotypes.

Objectives: To expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy.

Methods: We retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 ± 3.

Modulating Gamma Oscillations Promotes Brain Connectivity to Improve Cognitive Impairment.

Dementia causes a substantial global economic burden, but effective treatment is lacking. Recently, studies have revealed that gamma-band waves of electrical brain activity, particularly 40 Hz oscillations, are closely associated with high-order cognitive functions and can activate microglia to clear amyloid-β deposition. Here, we found that compared with sham stimulation, applying 40-Hz high-frequency repetitive transcranial magnetic stimulation (rTMS) over the bilateral angular gyrus in patients with probable Alzheimer's disease (AD; n = 37) resulted in up to 8 weeks of significantly improved cognitive function.

Disparity in Context: Understanding how monocular image content interacts with disparity processing in human visual cortex.

Horizontal disparities between the two eyes' retinal images are the primary cue for depth. Commonly used random ot tereograms (RDS) intentionally camouflage the disparity cue, breaking the correlations between monocular image structure and the depth map that are present in natural images. Because of the nonlinear nature of visual processing, it is unlikely that simple computational rules derived from RDS will be sufficient to explain binocular vision in natural environments.

The Correlation of ELP4-PAX6 With Rolandic Spike Sources in Idiopathic Rolandic Epilepsy Syndromes.

To study the single nucleotide polymorphism rs662702 of ELP4-PAX6 in patients with idiopathic rolandic epilepsy syndromes (IRES) in China and explore the relationship between the distribution of rolandic spike sources and the single nucleotide polymorphism rs662702 in ELP4-PAX6. First, clinical information was obtained from patients diagnosed with IRES. Next, the single nucleotide polymorphism rs662702 of ELP4 was analyzed by using the Sanger method.

Comprehensive genetic, clinical and electrophysiological studies of familial cortical myoclonic tremor with epilepsy 1 highlight the role of gene configurations.

Objectives: Two configurations of TTTTA/TTTCA expansion in SAMD12 have been identified in familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1). This study investigated the clinical and neurophysiological features of FCMTE1 and their association with TTTTA/TTTCA expansion patterns.

Methods: In total, 76 patients from 20 Chinese pedigrees were enrolled.

Identifying Morphological Patterns of Hippocampal Atrophy in Patients With Mesial Temporal Lobe Epilepsy and Alzheimer Disease.

Mesial temporal lobe epilepsy (MTLE) and Alzheimer's disease (AD) are two distinct neurological disorders associated with hippocampal atrophy. Our goal is to analyze the morphologic patterns of hippocampal atrophy to better understand the underlying pathological and clinical characteristics of the two conditions. Twenty-five patients with AD and 20 healthy controls with matched age and gender were recruited into the AD group.

Transcranial direct current stimulation reduces seizure frequency in patients with refractory focal epilepsy: A randomized, double-blind, sham-controlled, and three-arm parallel multicenter study.

Background: Transcranial direct current stimulation (tDCS) has been explored in epilepsy with limited samples, varied parameters, and inconclusive results. We aimed to study the efficacy of tDCS for patients with refractory focal epilepsy.

Method: We conducted a randomized, double-blind, sham-controlled, and three-arm (Group 1 (sham), Group 2 (20-min), and Group 3 (2 × 20-min)) tDCS parallel multicenter study.

Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant disorder characterized by focal seizures arising from different brain lobes in different family members. Currently, the diagnosis of this syndrome mainly depends on the combination of semiology and EEG after exclusion of other types of familial focal epilepsy. Mutations in dishevelled, Egl-10, and pleckstrin domain-containing protein 5 (DEPDC5) have been recently identified as a common cause of this syndrome.

Tractography optimization using quantitative T1 mapping in the human optic radiation.

Diffusion MRI tractography is essential for reconstructing white-matter projections in the living human brain. Yet tractography results miss some projections and falsely identify others. A challenging example is the optic radiation (OR) that connects the thalamus and the primary visual cortex.

Determinants of neural responses to disparity in natural scenes.

We studied disparity-evoked responses in natural scenes using high-density electroencephalography (EEG) in an event-related design. Thirty natural scenes that mainly included outdoor settings with trees and buildings were used. Twenty-four subjects viewed a series of trials composed of sequential two-alternative temporal forced-choice presentation of two different versions (two-dimensional [2D] vs.

The Structural Properties of Major White Matter Tracts in Strabismic Amblyopia.

Purpose: In order to better understand whether white matter structural deficits are present in strabismic amblyopia, we performed a survey of the tissue properties of 28 major white matter tracts using diffusion and quantitative magnetic resonance imaging approaches.

Methods: We used diffusion-based tensor modeling and a new quantitative T1 protocol to measure fractional anisotropy (FA), mean diffusivity (MD), and myelin-sensitive T1 values. We surveyed tracts in the occipital lobe, including the vertical occipital fasciculus (VOF)-a newly rediscovered tract that bridges dorsal and ventral areas of the occipital lobe, as well as tracts across the rest of the brain.

Hippocampal interplay with the nucleus accumbens is critical for decisions about time.

Human cognition depends upon the capacity to make decisions in the present that bear upon outcomes in the future. The nucleus accumbens, a recipient of direct projections from both the hippocampus and orbitofrontal cortex, is known to contribute to these aspects of decision-making. Here we demonstrate that interaction of the nucleus accumbens with the hippocampus, but not the orbitofrontal cortex, is critical in shaping decisions that involve time trade-offs.

Holistic processing as a hallmark of perceptual expertise for nonface categories including Chinese characters.

Holistic processing has been associated with perceptual expertise in different domains involving faces, cars, fingerprints, musical notes, English words, etc. Curiously Chinese characters are regarded as an exception, as indicated by reduced holistic processing found for experts with the Chinese writing system as compared with novices. We revisit the issue and examine one type of holistic processing, the obligatory attention to all parts of an object, using the composite paradigm from face perception literature.