Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Focal cortical dysplasia (FCD) is the most frequent etiology of operable pharmacoresistant epilepsy in children. There is burgeoning evidence that FCD-related epilepsy is a disorder that involves distributed brain networks. Functional magnetic resonance imaging (fMRI) is a tool that allows one to infer neuronal activity and to non-invasively map whole-brain functional networks. Despite its relative widespread availability at most epilepsy centers, the clinical application of fMRI remains mostly task-based in epilepsy. Another approach is to map and characterize cortical functional ...

Abstract

Objective

N-methyl-D-aspartate (NMDA) receptors are expressed at synaptic sites where they mediate fast excitatory neurotransmission. NMDA receptors are critical to brain development and cognitive function. Natural variants to the GRIN1 gene, which encodes the obligatory GluN1 subunit of the NMDA receptor are associated with severe neurological disorders that include epilepsy, intellectual disability and developmental delay. Here we investigated the pathogenicity of three missense variants to the GRIN1 gene, p. Ile148Val [GluN1-3b(I481V)], p.Ala666Ser [GluN1-3b(A666S)] and p.Tyr668His [GluN1-3b(Y668H)].

Methods

Wild-type and variant-containing NMDA receptors were ...

Abstract

Background

With the unanimous approval of the Intersectoral Global Action Plan on epilepsy and other neurological disorders by the World Health Organization in May 2022, there are strong imperatives to work towards equitable neurological care.

Aims

Using epilepsy as an entry point to other neurologic conditions, we discuss disparities faced by marginalized groups including racial/ethnic minorities, Americans living in rural communities, and Americans with low socioeconomic status.

Materials and Methods

The National Institute on Minority Health Disparities Research Framework (NIMHD) was used to conduct a ...

Abstract

Objective

In the present study, we describe a novel class of small-molecule synthetic compounds that ameliorate seizure-like behavior, using an electroshock assay to examine seizure duration in Caenorhabditis elegans. We also examine the hypothesis that these compounds, which we have called resveramorphs (RVMs), act by an irreversible binding mechanism.

Methods

Our electroshock assay examines seizure duration in C. elegans and can be used as a drug-screening platform for the identification of novel anti-seizure agents. The use of C. elegans allows for a rapid and efficient ...

Abstract

Objective

Wrist or ankle-worn devices are less intrusive than the widely used electroencephalogram systems for monitoring epileptic seizures. Using custom-developed deep-learning seizure detection models, we demonstrate the detection of a broad range of seizure types by wearable signals.

Methods

Patients admitted to the epilepsy monitoring unit were enrolled and asked to wear wearable sensors on either wrists or ankles. We collected patients’ electrodermal activity, accelerometry (ACC), and photoplethysmography from which blood volume pulse (BVP) is derived. Board-certified epileptologists determined seizure onset, offset, and ...

Abstract

Objective

Rapid eye movement (REM) sleep reduces the rate and extent of interictal epileptiform discharges (IEDs). Breakthrough epileptic activity during REM sleep is therefore thought to best localize the seizure-onset zone (SOZ). We utilized polysomnography combined with direct cortical recordings to investigate the influences of anatomical locations and the time of night on the suppressive effect of REM sleep on IEDs.

Methods

Forty consecutive patients with drug-resistant focal epilepsy underwent combined polysomnography and stereo-electroencephalography during presurgical evaluation. Ten-minute interictal epochs were selected 2 ...

Abstract

Objective

We aimed to study the correlation between seizure outcomes in patients with drug-resistant epilepsy (DRE) who underwent laser interstitial thermal therapy (LITT) and stereoelectroencephalographic electrophysiologic patterns with respect to the extent of laser ablation.

Methods

We retrospectively analyzed 16 consecutive DRE patients who underwent LITT. A seizure onset zone (SOZ) was obtained from multidisciplinary patient management conferences and again was confirmed independently by two epileptologists based on conventional analysis. SOZs were retrospectively divided into localized, lobar and multilobar, and nonlocalized onset types. ...

Abstract

Objective

This study was undertaken to develop a novel pathway linking genetic data with routinely collected data for people with epilepsy, and to analyze the influence of rare, deleterious genetic variants on epilepsy outcomes.

Methods

We linked whole-exome sequencing (WES) data with routinely collected primary and secondary care data and natural language processing (NLP)-derived seizure frequency information for people with epilepsy within the Secure Anonymised Information Linkage Databank. The study participants were adults who had consented to participate in the Swansea Neurology Biobank, ...

Abstract

Drug discovery in epilepsy began with the finding of potassium bromide by Sir Charles Locock in 1857. The following century witnessed the introduction of phenotypic screening tests for discovering antiseizure medications (ASMs). Despite the high success rate of developing ASMs, they have so far failed in eliminating drug-resistance and in delivering disease-modifying treatments. This emphasises the need for new drug discovery strategies in epilepsy. RNA-based drugs have recently shown promise as a new modality with the potential of providing disease-modification ...