Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

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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The burden of decisional uncertainty in the treatment of status epilepticus

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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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

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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Characterization of kindled VGAT‐Cre mice as a new animal model of temporal lobe epilepsy

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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Dynamic analysis of fMRI activation during epileptic spikes can help identify the seizure origin

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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Interrater agreement on classification of photoparoxysmal electroencephalographic response

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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Seizures with paroxysmal arousals in sleep‐related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias

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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Value of 7T MRI and post‐processing in patients with nonlesional 3T MRI undergoing epilepsy presurgical evaluation

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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Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real‐world study

Abstract

Objective

Dravet syndrome (DS) is a drug‐resistant, infantile onset epilepsy syndrome with multiple seizure types and developmental delay. In recently published randomized controlled trials, fenfluramine (FFA) proved to be safe and effective in DS.

Methods

DS patients were treated with FFA in the Zogenix Early Access Program at four Italian pediatric epilepsy centers. FFA was administered as add‐on, twice daily at an initial dose of 0.2 mg/kg/d up to 0.7 mg/kg/d. Seizures were recorded in a diary. Adverse events and cardiac safety (with Doppler echocardiography) ...

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Seizure‐onset regions demonstrate high inward directed connectivity during resting‐state: An SEEG study in focal epilepsy

Abstract

Objective

In patients with medically refractory focal epilepsy, stereotactic‐electroencephalography (SEEG) can aid in localizing epileptogenic regions for surgical treatment. SEEG, however, requires long hospitalizations to record seizures, and ictal interpretation can be incomplete or inaccurate. Our recent work showed that non‐directed resting‐state analyses may identify brain regions as epileptogenic or uninvolved. Our present objective is to map epileptogenic networks in greater detail and more accurately identify seizure‐onset regions using directed resting‐state SEEG connectivity.

Methods

In 25 patients with focal epilepsy who underwent SEEG, ...

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