Epilepsia Open

OBJECTIVE: We analyzed trends in patients' characteristics, outcomes, and waiting times over the last 25 years at our epilepsy surgery center situated in Central Europe to highlight possible areas of improvement in our care for patients with drug-resistant epilepsy. METHODS: A total of 704 patients who underwent surgery at the Brno Epilepsy Center were included in the study, 71 of those were children. Patients were separated into three time periods, 1996-2000 (n = 95), 2001-2010 (n = 295) and 2011-2022 (n = 314) based on first evaluation at the center...

OBJECTIVES: To summarize the clinical features of epilepsy related to DEPDC5, NPRL2, and NPRL3 genes encoding the GATOR1 complex in children, and to evaluate the factors affecting the prognosis of these epilepsies. METHODS: In this retrospective study, we reviewed the clinical and genetic characteristics of children with epilepsy related to GATOR1 variants who were admitted to the Peking University First Hospital between January 2016 and December 2021. Potential prognostic factors were assessed by comparing children with and without ongoing seizures...

OBJECTIVE: Cognitive comorbidities are common in epilepsy; however, symptomatic treatment is currently the only available effective therapy. Sleep, cognition and epilepsy are closely associated. Therefore, many studies on epilepsy and cognition have focused on sleep microstructures, such as sleep spindles, which are considered windows to understanding the sleeping brain. This study aimed to investigate the relationship between sleep spindles and the severity of cognitive impairment in adult epilepsy...

Successful epilepsy surgery depends on localising and resecting cerebral abnormalities and networks that generate seizures. Abnormalities, however, may be widely distributed across multiple discontiguous areas. We propose spatially constrained clusters as candidate areas for further investigation, and potential resection. We quantified the spatial overlap between the abnormality cluster and subsequent resection, hypothesising a greater overlap in seizure-free patients. Thirty-four individuals with refractory focal epilepsy underwent pre-surgical resting-state interictal MEG recording...

OBJECTIVE: Self-stigma is the internalization of unfavorable public perceptions, which people with epilepsy (PWE) frequently experience. PWE with strong self-stigma have low self-esteem and are less likely to engage in treatment behavior. The Epilepsy Self-Stigma Scale (ESSS) has been developed and validated in Japan. We translated the ESSS into German for this study to examine its reliability and validity. METHODS: We created the German version of ESSS (ESSS-G) based on the original Japanese version...

OBJECTIVE: Anxiety and depression are common comorbidities in people living with epilepsy. Emerging research suggests that these conditions may even predate epilepsy onset. This review aims to summarize the prevalence of clinically significant anxiety and depressive symptoms in people with first seizures and newly diagnosed epilepsy, as well as clinicodemographic factors associated with these symptoms. METHODS: A scoping literature review was performed. OVID Medline and Embase were searched from 1 January 2000 through 1 May 2022...

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OBJECTIVE: To investigate costs in working hours for initial integration of interictal EEG source localization (ESL) into clinical practice of a tertiary epilepsy center, and to examine concordance of results obtained with three different ESL pipelines. METHODS: This prospective study covered the first year of using ESL in the Epilepsy-Center Berlin-Brandenburg. Patients aged ≥14 years with drug-resistant focal epilepsy referred for noninvasive presurgical evaluation were included...

OBJECTIVE: Epilepsy surgery is widely accepted as an effective therapeutic option for carefully selected patients with drug-resistant epilepsy (DRE). There is limited data on the outcome of epilepsy surgery, especially in pediatric patients from the Eastern Mediterranean region. Hence, we performed a retrospective study examining the outcomes of resective surgery in 53 pediatric patients with focal DRE. METHODS: Patients with focal DRE who had undergone epilepsy surgery were included in the present study...

OBJECTIVE: Observational studies have shown an association between 25-hydroxyvitamin D (25(OH)D) and epilepsy, but it is unclear whether the association is causal. Therefore, we applied Mendelian randomization (MR) analysis to determine the causal relationship between serum 25(OH)D levels and epilepsy. METHODS: We conducted a two-sample Mendelian randomization (TSMR) study to investigate the association between serum 25(OH)D levels and epilepsy using pooled statistics from genome-wide association studies (GWAS)...

OBJECTIVE: This study investigated early, real-world outcomes with cenobamate (CNB) in a large series of patients with highly drug-resistant epilepsy within a Spanish Expanded Access Program (EAP). METHOD: This was a multicentre, retrospective, observational study in 14 hospitals. Inclusion criteria were age ≥18 years, focal seizures and EAP authorization. Data were sourced from patient clinical records. Primary effectiveness endpoints included reductions (100%, ≥90%, ≥75%, ≥50%) or worsening in seizure frequency at 3-, 6- and 12-month visits and at the last visit...

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OBJECTIVE: Invasive video-electroencephalography (iVEEG) is the gold standard for evaluation of refractory temporal lobe epilepsy before second stage resective surgery (SSRS). Traditionally, the presumed seizure onset zone (SOZ) has been covered with subdural electrodes (SDE), a very invasive procedure prone to complications. Temporal stereoelectroencephalography (SEEG) with conventional frame-based stereotaxy is time-consuming and impeded by the geometry of the frame. The introduction of robotic assistance promised a simplification of temporal SEEG implantation...

OBJECTIVE: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new and rare histopathological entity of cortical developmental malformations. The clinical characteristics in MOGHE remain challenging. METHODS: Children with histologically confirmed MOGHE were retrospectively studied. The clinical findings, electroclinical and imaging features, and postoperative outcome were analyzed and previous published studies were reviewed up to June 2022...

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OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS) are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic encephalopathy (DEE). This study aimed to better understand the RARS1 biallelic mutations and the associated phenotypes, particularly in patients with DEE. METHODS: We identified two patients with RARS1 biallelic mutations and functionally validated these mutations in vitro...

The γ-aminobutyric acid (GABA) is the main inhibitory transmitter in the central nervous system and GABA receptors mediate the inhibitory synaptic transmission. GABA binding to neuronal GABAA R leads to a rapid hyperpolarization and a higher excitation threshold due to an increase in membrane Cl- permeability. The synaptic GABAA R is mostly composed of two α(1-3), two β, and one γ subunit with the most abundant configuration α1β2γ2. Recently, antibodies (Abs) against α1, β3, and γ2 subunits of GABAA R were detected in a severe form of autoimmune encephalitis with refractory seizures, status epilepticus, and multifocal brain lesions, affecting gray and white matter...

OBJECTIVE: We searched for, from the FDA (Food and Drug Administration-USA)-approved drugs, inhibitors of FKBP5 with tolerable adverse effect profiles (e.g., mild headache, sedation, etc.) and with the ability to cross the blood brain barrier (BBB), using bio-informatics tools (in-silico). This may pave the road for designing clinical trials of such drugs in patients with functional seizures (FS) and other stress-associated disorders. METHODS: Several databases were used to find all the approved drugs that potentially have interactions with FKBP51 protein [i...