OCT
Abstract
Objective
Population‐based data on epilepsy syndromes and etiologies in early onset epilepsy are scarce. The use of next‐generation sequencing (NGS) has hitherto not been reported in this context. The aim of this study is to describe children with epilepsy onset before 2 years of age, and to explore to what degree whole exome and whole genome sequencing (WES/WGS) can help reveal a molecular genetic diagnosis.
Methods
Children presenting with a first unprovoked epileptic seizure before age 2 years and registered in the Stockholm Incidence Registry ...
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Abstract
Objective
Treatments for convulsive status epilepticus (SE) have a wide range of effectiveness. The estimated effectiveness of non‐intravenous benzodiazepines (non‐IV BZDs) ranges from approximately 70% to 90% and the estimated effectiveness of non‐benzodiazepine antiseizure medications (non‐BZD ASMs) ranges from approximately 50% to 80%. This study aimed to quantify the clinical and economic burden of decisional uncertainty in the treatment of SE.
Methods
We performed a decision analysis that evaluates how decisional uncertainty on treatment choices for SE impacts hospital admissions, intensive care unit ...
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Abstract
Objective
We aimed to delineate the phenotypic spectrum and long‐term outcome of individuals with KCNB1 encephalopathy.
Methods
We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association “KCNB1 France.” Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long‐term outcome in patients older than 12 years from our series and from literature.
Results
Our series included ...
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Abstract
Objective
Development of novel therapies for temporal lobe epilepsy is hindered by a lack of models suitable for drug screening. While testing the hypothesis that “inhibiting inhibitory neurons” was sufficient to induce seizures, it was discovered that a mild electrical kindling protocol of VGAT‐Cre mice led to spontaneous motor and electrographic seizures. This study characterizes these seizures and investigates the mechanism.
Methods
Mice were implanted with electroencephalographic (EEG) headsets that included a stimulating electrode in the hippocampus before being electrically kindled. Seizures were ...
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Abstract
Objective
We use the dynamic electroencephalography–functional magnetic resonance imaging (EEG‐fMRI) method to incorporate variability in the amplitude and field of the interictal epileptic discharges (IEDs) into the fMRI analysis. We ask whether IED variability analysis can (a) identify additional activated brain regions during the course of IEDs, not seen in standard analysis; and (b) demonstrate the origin and spread of epileptic activity. We explore whether these functional changes recapitulate the structural connections and propagation of epileptic activity during seizures.
Methods
Seventeen patients with ...
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Abstract
Our goal was to assess the interrater agreement (IRA) of photoparoxysmal response (PPR) using the classification proposed by a task force of the International League Against Epilepsy (ILAE), and a simplified classification system proposed by our group. In addition, we evaluated IRA of epileptiform discharges (EDs) and the diagnostic significance of the electroencephalographic (EEG) abnormalities. We used EEG recordings from the European Reference Network (EpiCARE) and Standardized Computer‐based Organized Reporting of EEG (SCORE). Six raters independently scored EEG recordings from ...
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Abstract
Objective
Sleep‐related hypermotor epilepsy (SHE) is a focal epilepsy characterized by seizures occurring mostly during sleep, ranging from brief seizures with paroxysmal arousals (SPAs) to hyperkinetic seizures and ambulatory behaviors. SPAs are brief and stereotypic seizures representing the beginning of a major seizure. Distinguishing SPAs from disorders of arousal (DOAs) and their briefest episodes called simple arousal movements (SAMs) is difficult. We performed a characterization of SPAs and SAMs to identify video‐polysomnographic (VPSG) features that can contribute to the diagnosis of ...
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Abstract
Objective
Ultra‐high‐field 7‐Tesla (7T) magnetic resonance imaging (MRI) offers increased signal‐to‐noise and contrast‐to‐noise ratios, which may improve visualization of cortical malformations. We aim to assess the clinical value of in vivo structural 7T MRI and its post‐processing for the noninvasive identification of epileptic brain lesions in patients with pharmacoresistant epilepsy and nonlesional 3T MRI who are undergoing presurgical evaluation.
Methods
Sixty‐seven patients were included who had nonlesional 3T MRI by official radiology report. Epilepsy protocols were used for the 3T and 7T acquisitions. ...
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