Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Changes in extracellular matrix (ECM) and highly condensed ECM structures called perineuronal nets (PNNs) have been reported in human patients with epilepsy as well as some animal models of epilepsy. We studied potential ECM changes in a mouse model of pilocarpine-induced status epilepticus (PISE) and their potential contributions to seizures.

Methods

We used a reduced intensity pilocarpine model to induce status epilepticus (SE) in mice. Wisteria floribunda agglutinin (WFA) staining was used to identify PNNs. Immunohistochemistry, patch-clamp electrophysiology, drug studies, and transcriptomic ...

Abstract

Objective

This study investigates excitatory/inhibitory (E/I) imbalances in GNAO1-related disorders (GNAO1-RD), linking neuronal dysfunction to clinical severity using E/I-sensitive electroencephalography (EEG) analyses.

Methods

We conducted an observational study involving 12 children with GNAO1-RD caused by pathogenic variants and 36 age-matched, typically developing children (TDC). EEG was recorded during eyes-closed rest. Clinical evaluations included scales for epilepsy, movement disorders, motor and language development, and an overall clinical severity score. Molecular assessments of GNAO1 variants used bioluminescence resonance energy transfer (BRET) assays. Quantitative EEG measures ...

Abstract

Objective

Pathogenic ANKH variants are a known cause of chondrocalcinosis (Online Mendelian Inheritance in Man [OMIM] #118600) and craniometaphyseal dysplasia (OMIM #123000). Here, we describe the phenotype and genotype of autosomal dominant infantile epilepsy caused by a c.-11C>T change upstream of the gene’s normal ATG initiation codon of ANKH in a family of southern Italian descent; we correlate the phenotype with known epilepsy syndromes and provide the first evidence of recurrence of this particular ANKH variant.

Methods

Phenotyping and genotyping (short-read exome/genome sequencing) ...

Abstract

Objective

In patients with focal drug-resistant epilepsy (DRE), resective epilepsy surgery correlates with high rates of remission. However, in cases where the epileptic region is deemed surgically inaccessible, or when it involves a complex network, stereoelectroencephalography-guided radiofrequency thermocoagulation (SEEG-RFTC) might be an alternative therapeutic strategy. However, most of the available evidence is limited to small observational studies. An updated meta-analysis is warranted to provide a comprehensive assessment of SEEG-RFTC in patients with DRE.

Methods

Databases were searched until September 9, 2023 to identify ...

Abstract

Objectives

Responsiveness to vagus nerve stimulation (VNS) in children with drug-resistant epilepsy (DRE) is often defined based on reduction in seizure frequency, typically at the 50% threshold, with limited consideration to the effects of therapy on seizure severity and health-related quality of life (HRQoL). In the current report, we sought to better characterize the effects of VNS beyond seizure frequency in children with DRE.

Methods

Sixty-seven children from the Connectomic profiling and Vagus nerve stimulation Outcomes Study (CONNECTiVOS) database, a multicenter study including children ...

Abstract

Objective

Current weight-based dosing fails to account for pharmacokinetic variability in refractory and superrefractory status epilepticus (RSE, SRSE). However, understanding pharmacokinetics in critically ill patients with varying degrees of organ dysfunction can improve both safety and efficacy. Hence, this study aims to quantify key pharmacokinetic variabilities to enable individualized dosing in RSE and SRSE.

Methods

Patients with RSE and SRSE admitted to a neurointensive care unit of a tertiary academic center were retrospectively screened for therapeutic drug monitoring (TDM) samples of phenobarbital. Demographics, ...

Abstract

Objective

This study aims to investigate the role of splicing variants in the DEPDC5 gene, which is commonly associated with familial focal epilepsies. Although heterozygous germline variants in genes encoding components of the GAP activity toward Rags 1 (GATOR1) complex (DEPDC5, NPRL2, and NPRL3) have been frequently identified in these cases, the effects of most previously identified variants on splicing remain unstudied. We focused on analyzing both intronic and exonic splicing variants and developing a potential correction strategy.

Methods

Gene panel, whole-exome sequencing ...

Abstract

Objective

This study was undertaken to investigate clinical and psychosocial factors associated with antiseizure medication (ASM) non-discontinuation in seizure-free patients with epilepsy among both neurologists and patients.

Methods

In this cross-sectional study, neurologists documented their recommendations on ASM discontinuation (comprising both complete discontinuation and ≥25% dose reduction) in patients aged ≥18 years who had been seizure-free for at least 2 years. Based on these recommendations, patients made individual decisions. In both neurologists and patients, reasons for and predictors of ASM non-discontinuation were assessed considering demographic ...

Abstract

Generalized epileptiform discharges (GEDs) in idiopathic generalized epilepsy (IGE) are classically considered symmetrical in amplitude, although this has not been formally tested. This is a major knowledge gap, since asymmetry is conventionally considered an atypical feature, with clinical implications. Furthermore, if such asymmetry exists, it would challenge the concept that IGE engages homogenously the entire brain and rather supports the hypothesis that IGE is shaped by delimited networks. Here, we asked whether GEDs in IGE are asymmetrical and whether this ...

Abstract

Objective

This study was undertaken to develop and validate an automatic, artificial intelligence-enhanced software tool for hippocampal sclerosis (HS) detection, using a variety of standard magnetic resonance imaging (MRI) protocols from different MRI scanners for routine clinical practice.

Methods

First, MRI scans of 36 epilepsy patients with unilateral HS and 36 control patients with epilepsy of other etiologies were analyzed. MRI features, including hippocampal subfield volumes from three-dimensional (3D) magnetization-prepared rapid acquisition gradient echo (MPRAGE) scans and fluid-attenuated inversion recovery (FLAIR) intensities, were ...