Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy.

Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.

Short-Latency Trigeminocervical Reflex Obtained Without Muscle Activation: Topographic Distribution and Methodological Approach.

Purpose: Electrical stimulation of trigeminal nerve branches elicits early and late reflex responses in the cervical muscles, known as the trigeminocervical reflex (TCR). This study aimed to evaluate the neurophysiological aspects, stimulation patterns, and topographic distribution of short-latency TCR components in humans in the absence of voluntary muscle activation.

Methods: This prospective observational study included 30 participants.

Norepinephrine-mediated slow vasomotion drives glymphatic clearance during sleep.

As the brain transitions from wakefulness to sleep, processing of external information diminishes while restorative processes, such as glymphatic removal of waste products, are activated. Yet, it is not known what drives brain clearance during sleep. We here employed an array of technologies and identified tightly synchronized oscillations in norepinephrine, cerebral blood volume, and cerebrospinal fluid (CSF) as the strongest predictors of glymphatic clearance during NREM sleep.

A Double-Blind Comparative Study of burstDR Versus Tonic Epidural Motor Cortex Stimulation for the Treatment of Intractable Neuropathic Pain.

Background: Preliminary studies on epidural motor cortex stimulation (eMCS) for the treatment of drug-resistant neuropathic pain have supported the extension to novel stimulation waveforms, in particular burstDR. However, only a low level of evidence is available. The aim of this retrospective observational study was to compare the analgesic efficacy of burstDR versus tonic eMCS.

The presence of unknown polio engagement confirmed by electromyography and muscle testing.

Objective: To evaluate the usefulness of electromyography at a polio clinic in identifying unperceived muscle denervation. Second, to compare people who perceived themselves as weak in 1 or both legs with those who did not.

Design: Cross-sectional study.

What are the important risk factors for excessive daytime sleepiness in a population-based cohort?

Excessive daytime sleepiness (EDS) is a common complaint in the general population and is associated with cardiovascular disease and increased mortality. We aimed to investigate whether sleep duration is related to excessive daytime sleepiness in the general population, both in itself and in combination with other factors. We performed a cross-sectional analysis in the population-based Swedish CArdioPulmonary bioImage Study (SCAPIS) cohort (n = 27,976; 14,436 females; aged 50-64 years) to assess how sleep-related factors along with anthropometric, lifestyle, socioeconomic factors as well as somatic disease and psychological distress, were related with EDS assessed by the Epworth sleepiness scale (ESS).

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.

Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.

Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).

Dream Enactment Behaviour in Post-Traumatic Stress Disorder.

Sleep disturbances are widely reported in Post-Traumatic Stress Disorder (PTSD). Although Dream Enactment Behaviour (DEB) has long been associated with PTSD, its high prevalence has only recently been recognized, sparking discussions about the classification of trauma-related sleep disorders. The impact of DEB on treatment outcomes in PTSD remains unexplored.

Obsessive-Compulsive Disorder with a Religious Focus: An Observational Study.

: Obsessive-compulsive disorder (OCD) is a psychiatric disorder with poorly detailed subtypes/dimensions, such as religious OCD (ROCD). To date, little is known about ROCD characteristics. This work aimed to describe the sociodemographic and clinical characteristics, along with the religiosity and spirituality, of Lebanese Muslim citizens diagnosed with OCD and exhibiting religious symptoms.

Gestational Duration and Postnatal Age-Related Changes in Aperiodic and Periodic Parameters in Neonatal and Toddler Electroencephalogram (EEG).

The brain develops most rapidly during pregnancy and early neonatal months. While prior electrophysiological studies have shown that aperiodic brain activity undergoes changes across infancy to adulthood, the role of gestational duration in aperiodic and periodic activity remains unknown. In this study, we aimed to bridge this gap by examining the associations between gestational duration and aperiodic and periodic activity in the EEG power spectrum in both neonates and toddlers.

Brain oscillatory activity evoked by chirp modulated tones in healthy children.

Aim: To describe the features of cortical oscillatory activity and neuronal synchronization by monitoring responses evoked by chirp-modulated tone (CMT) and look for relationships with cognition in healthy children.

Methods: We recruited 23 healthy children, 1-18 years old, assessed their cognitive abilities and recorded the cortical oscillatory activity evoked by CMTs. We obtained descriptive statistics and looked for correlations with cognitive abilities.

Objective outcome prediction in depression through functional MRI brain network dynamics.

Research Purpose: Subjective clinical decision-making in major depressive disorder (MDD) may result in low treatment effectiveness. This study aims to identify objective predictors of MDD outcome using resting-state functional MRI scans, acquired from 25 MDD patients at baseline. Over a year, patients were assessed every 3 months, labeled as positive or negative outcome (change in depression severity).

Preclinical and clinical study on type 3 metabotropic glutamate receptors in Parkinson's disease.

Metabotropic glutamate (mGlu) receptors are candidate drug targets for therapeutic intervention in Parkinson's disease (PD). Here we focused on mGlu3, a receptor subtype involved in synaptic regulation and neuroinflammation. mGlu3 mice showed an enhanced nigro-striatal damage and microglial activation in response to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).

The cerebral blood flow response to neuroactivation is reduced in cognitively normal men with β-amyloid accumulation.

Background: Accumulation of β-amyloid (Aβ) in the brain is a hallmark of Alzheimer's Disease (AD). Cerebral deposition of Aβ initiates deteriorating pathways which eventually can lead to AD. However, the exact mechanisms are not known.

Single unit-derived connectivity networks in tuberous sclerosis complex reveal propensity for network hypersynchrony driven by tuber-tuber interactions.

Network hypersynchrony is emerging as an important system-level mechanism underlying seizures, as well as cognitive and behavioural impairments, in children with structural brain abnormalities. We investigated patterns of single neuron action potential behaviour in 206 neurons recorded from tubers, transmantle tails of tubers and normal looking cortex in 3 children with tuberous sclerosis. The patterns of neuronal firing on a neuron-by-neuron (autocorrelation) basis did not reveal any differences as a function of anatomy.

Evidence for spinal disinhibition as a pain-generating mechanism in fibromyalgia syndrome.

Introduction: Pain phenomenology in patients with fibromyalgia syndrome (FMS) shows considerable overlap with neuropathic pain. Altered neural processing leading to symptoms of neuropathic pain can occur at the level of the spinal cord, and 1 potential mechanism is spinal disinhibition. A biomarker of spinal disinhibition is impaired H-reflex rate-dependent depression (HRDD).

Neural processing of sad and happy autobiographical memories in women with depression and borderline personality disorder.

Patients with major depressive disorder (MDD) and borderline personality disorder (BPD) are reported to have disrupted autobiographical memory (AM). Using functional magnetic resonance imaging we investigated behavioral and neural processing of the recall of emotional (sad and happy) memories in 30 MDD, 18 BPD, and 34 healthy control (HC) unmedicated women. The behavioral results showed that the MDD group experienced more sadness than the HC after the sad recall, while BPD participants experienced less happiness than HC after the happy recall.

Spectrum disorder of RFC1 expansions/CANVAS: Clinical and electrophysiological characterization of a group of 31 patients.

Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.

Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.

Change in sleep quality Induced by adaptive servo-ventilation for central sleep apnea: 6-month follow-up of the multicenter nationwide French FACIL-VAA cohort.

Background: A large number of symptomatic individuals with central sleep apnea (CSA) in clinical practice have an indication for adaptive servo-ventilation (ASV) therapy.

Research Question: What are the effects of ASV therapy on sleep quality and PROMs in patients with CSA across a range of devices and indications.

Methods: This prospective, multicenter, observational cohort study was conducted in France and enrolled participants from June 2017 to February 2020.

Lasting and extensive consequences of left mesial temporal lobe seizures on electrical cortical activity.

Background And Objectives: Focal epilepsies disrupt long-range networks with seizure recurrence driving both regional and global alterations in connectivity networks. While prior studies have focused on the interictal consequences, limited data exist on the direct aftermath of focal seizures. We hypothesize that mesial temporal lobe seizures lead to enduring cortical disorganization.

Hypothermia improves neuronal network recovery in a human-derived in vitro model of oxygen-deprivation.

Mild therapeutic hypothermia showed potential neuroprotective properties during and after cerebral hypoxia or ischemia in experimental animal studies. However, in clinical trials, where hypothermia is mainly applied after reperfusion, results were divergent and neurophysiological effects unclear. In our current study, we employed human-derived neuronal networks to investigate how treatment with hypothermia during hypoxia influences neuronal functionality and whether it improves post-hypoxic recovery.

In response to Mutti et al. 2024 commentary on "Transient intracranial pressure elevations (B waves) associated with sleep apnea: the neglected role of cyclic alternating pattern".

The physiology of transient intracranial pressure (ICP) elevations (B waves), remains incompletely understood and appears to involve multiple mechanisms, including obstructive sleep apnea (OSA). Transient ICP elevations are associated with OSA and cyclic alternating pattern (CAP) metrics, suggesting a complex interplay between sleep fragmentation and ICP dynamics. Additionally, CAP metrics could complement standard OSA assessments, providing deeper insights into transient ICP fluctuations, particularly in conditions like normal-pressure hydrocephalus and idiopathic intracranial hypertension.

Stroke recurrence and all-causemortality in CPAP-treated sleep-disordered-breathing patients.

Background: Obstructive sleep apnea (OSA) affects about 70 % of stroke patients and is closely linked to stroke development. It is unclear whether treatment with continuous positive airway pressure (CPAP) reduces the risk of stroke recurrence or mortality in post-stroke patients, partly due to limited follow-up time and small sample sizes of previous studies. To close this knowledge gap, this study investigated changes in stroke recurrence and mortality among CPAP-treated post-stroke patients with sleep-disordered breathing.