frontal nocturnal

CNKSR2 variants have been associated with X linked intellectual disability and epilepsy including developmental and epileptic encephalopathy with spike wave activation in sleep (D/EE SWAS) in males. We aimed to describe a sibling pair with a novel pathogenic variant in CNKSR2 with D/EE SWAS and review published cases of D/EE SWAS. A retrospective chart review and a comprehensive review of the literature were conducted. Two brothers with a novel pathogenic variant in the CNKSR2 gene (c. 114delG, p.Ile39SerfsX14) were identified...

BACKGROUND: Decreased endogenous melatonin concentrations in people with multiple sclerosis (PwMS) are associated with fatigue and pain that impair postural balance and muscle strength. Melatonin ingestion had analgesic and anti-fatigue effects. However, the acute effect of exogenous melatonin on dynamic postural stability and muscle strength has not been studied yet in PwMS. This study aimed to investigate the safety and the efficacy of a nighttime melatonin intake on dynamic postural balance and lower-extremity muscle strength the following morning in PwMS...

OBJECTIVE: Seizure prediction is a promising solution to improve the quality of life for drug-resistant patients, which concerns nearly 30% of patients with epilepsy. The present study aimed to ascertain the impact of incorporating sleep-wake information in seizure prediction. METHODS: We developed five patient-specific prediction approaches that use vigilance state information differently: i) using it as an input feature, ii) building a pool of two classifiers, each with different weights to sleep/wake training samples, iii) building a pool of two classifiers, each with only sleep/wake samples, iv) changing the alarm-threshold concerning each sleep/wake state, and v) adjusting the alarm-threshold after a sleep-wake transition...

Differentiating between non-rapid eye movement (NREM) parasomnias and sleep-related hypermotor epilepsy (SHE) is challenging, as they exhibit similar episodes during sleep. A relatively high prevalence of NREM parasomnias has been detected in families with SHE. However, the common pathophysiologic mechanism is not completely clear. There have been no previous reports of KCNT1 -related SHE combined with NREM parasomnias. In this report, we describe a 17 years-old male patient from a KCNT1 mutation family who exhibited complex abnormal behaviors during sleep, which have been confirmed as epileptic seizures combined with NREM parasomnias through video-electroencephalogram (vEEG) and video-polysomnography (vPSG)...

An osteoid osteoma (OO) is a benign bone neoplasm, characterized by significant nocturnal pain that usually responds to nonsteroidal anti-inflammatory drugs. It occurs most commonly in the lower extremities and vertebrae. Here, we present a case of carcinoma prostate, who was referred to our department for 68 Ga-PSMA PET/CT scan, and we incidentally found out PSMA-avid OO involving frontal bone of skull, which is a rare finding. To the best of our knowledge, this is the second case in which high PSMA uptake is found in the OO, suggesting a possible PSMA expression related to osteoblastic activity...

PURPOSE: Patients with epilepsy frequently experience autonomic dysfunction, closely related to sudden unexplained death in epilepsy (SUDEP). SUDEP occurs most often at night or during sleep, and frequent nocturnal seizures are an established risk factor. This study investigated the influence of nocturnal seizures on autonomic dysfunction in epilepsy. PATIENTS AND METHODS: This retrospective study enrolled frontal lobe epilepsy (FLE) patients who performed 24-hour EEG monitoring...

INTRODUCTION: Alzheimer's disease is associated with sleep disturbances and accumulation of cerebral amyloid beta. The objective was to examine whether actigraphy-detected sleep parameters might be biomarkers for early amyloid burden. METHODS: Participants underwent a week of actigraphy and an amyloid positron emission tomography (PET) scan. Sleep duration and continuity disruption (sleep fragmentation and nocturnal awakenings) were extracted and compared between amyloid-positive and amyloid-negative participants...

Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mutation can cause developmental and epileptic encephalopathy 4, mainly presenting as a developmental and epileptic encephalopathy. We performed the exome-targeted next-generation sequencing in our patient and identified two heterozygous variants: c.963 + 2T>C of STXBP1 and c...

Autosomal dominant sleep-related hypermotor epilepsy is a rare disease caused by pathogenic variants of CHRNB2, CHRNA4, and CHRNA2 genes, with nocturnal frontal lobe epilepsy as the main symptoms. Syntaxin binding protein 1 (STXBP1) gene mutation can cause developmental and epileptic encephalopathy 4, mainly presenting as a developmental and epileptic encephalopathy. We performed the exome-targeted next-generation sequencing in our patient and identified two heterozygous variants: c.963 + 2T>C of STXBP1 and c...

The Cyclic Alternating Pattern (CAP) can be considered a physiological marker of sleep instability. The CAP can examine various sleep-related disorders. Certain short events (A and B phases) manifest related to a specific physiological process or pathology during non-rapid eye movement (NREM) sleep. These phases unexpectedly modify EEG oscillations; hence, manual detection is challenging. Therefore, it is highly desirable to have an automated system for detecting the A-phases (AP). Deep convolution neural networks (CNN) have shown high performance in various healthcare applications...

The study of electroencephalographic (EEG) signals in nonhuman primates has led to important discoveries in neurophysiology and sleep behavior. Several studies have analyzed digital EEG data from primate species with prehensile tails, like the spider monkey, and principal component analysis has led to the identification of new EEG bands and their spatial distribution during sleep and wakefulness in these monkeys. However, the spatial location of the EEG correlations of these new bands during the sleep-wake cycle in the spider monkey has not yet been explored...

Animal behavioral tests are often conducted during the day. However, rodents are nocturnal animals and are primarily active at night. The aim of this study was to determine whether there are diurnal changes in cognitive and anxiety-like performance of mice following chronic sleep restriction (SR). We also investigated whether this phenotypic difference is related to the diurnal variation of glymphatic clearance of metabolic wastes. Mice received 9-day SR by the use of the modified rotating rod method, followed by the open field, elevated plus maze, and Y-maze tests conducted during the day and at night, respectively...

This report documents the clinical features of supplementary motor area seizures with voluntary movements in two patients. The first case describes a 13-year-old boy with a 2-year history of nocturnal seizures, characterized by an asymmetrical brief tonic posture followed by bilateral rapid hand shaking, but without impaired awareness. Magnetic resonance imaging revealed no abnormalities. Video electroencephalogram indicated interictal focal spikes and ictal activity 2 s before clinical onset in the frontal midline area...

Non-REM parasomnias are often observed during childhood and adolescence, by which time they typically remit. For a small percentage, these nocturnal behaviors can persist into adulthood, or in some cases, present as a new onset in adults. Non-REM parasomnias (also known as disorders of arousal) can offer a diagnostic challenge in patients who have an atypical presentation where REM sleep parasomnias, nocturnal frontal lobe epilepsy, and overlap parasomnia should be considered as part of the differential. The purpose of this review is to discuss the clinical presentation, evaluation, and management of non-REM parasomnias...

Particulate nitrate (NO3 - ) has currently become the major component of fine particles in the North China Plain (NCP) during winter haze episodes. However, the contributions of formation pathways to ground NO3 - in the NCP are not fully understood. Herein, the NO3 - formation pathways were comprehensively investigated based on model simulations combined with two-month field measurements at a rural site in the winter NCP. The results indicated that the nocturnal chemistry of N2 O5 hydrolysis aloft could contribute evidently to ground NO3 - at the rural site during the pollution episodes with high aerosol water contents, achieving the contribution percentages of 25...

Robust frontoparietal connectivity is a defining feature of primate cortical organization. Whether mammals outside the primate order, such as rodents, possess similar frontoparietal functional connectivity organization is a controversial topic. Previous work has primarily focused on comparing mice and rats to primates. However, as these rodents are nocturnal and terrestrial, they rely much less on visual input than primates. Here, we investigated the functional cortical organization of grey squirrels which are diurnal and arboreal, thereby better resembling primate ecology...

Sleep plays a key role in supporting brain function and resilience to brain decline. It is well known that sleep changes substantially with aging and that aging is associated with deterioration of brain structure. In this study, we sought to characterize the relationship between slow wave slope (SWslope)-a key marker of sleep architecture and an indirect proxy of sleep quality-and microstructure of white matter pathways in healthy adults with no sleep complaints. Participants were 12 young (24-27 years) and 12 older (50-79 years) adults...

The Cyclic Alternating Pattern (CAP) is a periodic activity detected in the electroencephalogram (EEG) signals. This pattern was identified as a marker of unstable sleep with several possible clinical applications; however, there is a need to develop automatic methodologies to facilitate real-world applications based on CAP assessment. Therefore, a deep learning-based EEG channels' feature level fusion was proposed in this work and employed for the CAP A phase classification. Two optimization algorithms optimized the channel selection, fusion, and classification procedures...

Background: Ceftriaxone is a commonly used antibiotic in a wide range of local and systemic infections. Encephalopathy is a rare complication of ceftriaxone, often seen in older adults and those with renal insufficiency. Case Description: A 73-year-old lady with prior history of hypertension and dyslipidemia presented with the complaints of slurred speech, gait imbalance, nocturnal vomiting, and progressively worsening headache. A magnetic resonance imaging of the brain revealed two intracerebral lesions involving the right frontal and temporal lobes, suggestive of multicentric glioma...

Objective: Primary nocturnal enuresis (PNE) is a common developmental condition in school-aged children. The objective is to better understand the pathophysiology of PNE by using insula-centered resting-state functional connectivity (rsFC). Methods: We recruited 66 right-handed participants in our analysis, 33 with PNE and 33 healthy control (HC) children without enuresis matched for gender and age. Functional and structural MRI data were obtained from all the children...