Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Dravet syndrome (DS) is a rare cause of severe and pharmacoresistant epileptic encephalopathy. Stiripentol (STP) has a significant therapeutic benefit in the pediatric DS population. However, STP effects on adult patients have not been well studied. In our adult STP‐naive DS patient population, STP initiation was associated with encephalopathy, despite decreases in valproate and clobazam dosage. Here we explored the cause and treatment of encephalopathic manifestations associated with STP in adults.

Methods

Twenty‐eight patients with a confirmed clinical and genetic diagnosis of ...

Abstract

Objective

Fenfluramine has been shown to provide clinically meaningful and statistically significant reductions in convulsive seizure frequency in children and adolescents (aged 2‐18 years) with Dravet syndrome in two randomized, placebo‐controlled clinical trials. The objective of this analysis was to assess longer‐term safety and efficacy of fenfluramine in patients who completed one of the double‐blind studies and entered an open‐label extension (OLE) study.

Methods

Patients enrolling in the OLE study initiated fenfluramine at 0.2 mg/kg/d regardless of their treatment assignment in the double‐blind study. After ...

Abstract

Approximately one‐third of people living with epilepsy are unable to obtain seizure control with the currently marketed antiseizure medications (ASMs), creating a need for novel therapeutics with new mechanisms of action. Cenobamate (CBM) is a tetrazole alkyl carbamate derivative that received US Food and Drug Administration approval in 2019 for the treatment of adult partial onset (focal) seizures. Although CBM displayed impressive seizure reduction in clinical trials across all seizure types, including focal aware motor, focal impaired awareness, and focal ...

Abstract

The occurrence of seizures at specific times of the day has been consistently observed for centuries in individuals with epilepsy. Electrophysiological recordings provide evidence that seizures have a higher probability of occurring at a given time during the night and day cycle in individuals with epilepsy here referred to as the seizure rush hour. Which mechanisms underlie such circadian rhythmicity of seizures? Why don’t they occur every day at the same time? Which mechanisms may underlie their occurrence outside the ...

Abstract

Objective

Electroencephalographic seizures (ESs) are common in encephalopathic critically ill children, but identification requires extensive resources for continuous electroencephalographic monitoring (CEEG). In a previous study, we developed a clinical prediction rule using three clinical variables (age, acute encephalopathy category, clinically evident seizure[s] prior to CEEG initiation) and two electroencephalographic (EEG) variables (EEG background category and interictal discharges within the first 30 minutes of EEG) to identify patients at high risk for ESs for whom CEEG might be essential. In the current study, ...

Abstract

Objective

Autosomal recessive pathogenic variants of the SLC13A5 gene are associated with severe neonatal epilepsy, developmental delay, and tooth hypoplasia/hypodontia. We report on 14 additional patients and compare their phenotypic features to previously published patients to identify the clinical hallmarks of this disorder.

Methods

We collected clinical features of 14 patients carrying biallelic variants in SLC13A5 and performed a PubMed search to identify previously published patients.

Results

All patients presented clonic or tonic seizures in the first days of life, evolving into status epilepticus in ...

Abstract

Objective

To characterize neocortical onset status epilepticus (SE) in the C57BL/6J mouse.

Methods

We induced SE by administering homocysteine 16‐18 hours after cobalt (Co) implantation. SE was monitored by video and electroencephalography (EEG). We evaluated brain structure with magnetic resonance imaging (MRI). Neurodegeneration was evaluated 72 hours after SE using Fluoro‐Jade C staining.

Results

Cobalt triggered seizures in a dose‐dependent manner (median effective dose, ED₅₀ = 0.78 mg) and the latency to peak seizure frequency shortened with increased dose. Animals developed SE after homocysteine administration. SE began with early intermittent ...

Abstract

We compared sudden unexpected death in epilepsy (SUDEP) diagnosis rates between North American SUDEP Registry (NASR) epileptologists and original death investigators, to determine degree and causes of discordance. In 220 SUDEP cases with post‐mortem examination, we recorded the epileptologist adjudications and medical examiner‐ and coroner‐ (ME/C) listed causes of death (CODs). COD diagnosis concordance decreased with NASR’s uncertainty in the SUDEP diagnosis: highest for Definite SUDEP (84%, n = 158), lower in Definite Plus (50%, n = 36), and lowest in Possible (0%, n = 18). ...

Abstract

Objective

A multidisciplinary quality improvement (QI) team was established to conduct analysis of data for prescribed seizure rescue medication doses from January 2013 to December 2015 to identify and improve inappropriately low dose prescriptions. The QI team identified areas of focus for improvement opportunities and developed the project objective based on the 2017 American Academy of Neurology (AAN) and Child Neurology Society (CNS) quality measure.

Methods

Within a freestanding children’s hospital, the QI team developed key drivers and implemented interventions, such as the ...

Abstract

Objective

No validated tools exist to assess satisfaction with epilepsy surgery. We aimed to develop and validate a new measure of patient satisfaction with epilepsy surgery, the 19‐item Epilepsy Surgery Satisfaction Questionnaire (ESSQ‐19).

Methods

An initial 31‐item measure was developed based on literature review, patient focus groups, thematic analysis, and Delphi panels. The questionnaire was administered twice, 4‐6 weeks apart, to 229 adults (≥18 years old) who underwent epilepsy surgery ≥1 year earlier, at three centers in Canada and one in Sweden. Participants also completed seven ...