Epilepsia. Official Journal of the International League Against Epilepsy

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 ...

Abstract

Objective

To characterize seizure and cognitive outcomes of sparing vs removing an magnetic resonance imaging (MRI)–normal hippocampus in patients with temporal lobe epilepsy.

Methods

In this retrospective cohort study, we reviewed clinical, imaging, surgical, and histopathological data on 152 individuals with temporal lobe epilepsy and nonlesional hippocampi categorized into hippocampus‐spared (n = 74) or hippocampus‐resected (n = 78). Extra‐hippocampal lesions were allowed. Pre‐ and postoperative cognitive data were available on 86 patients. Predictors of seizure and cognitive outcomes were identified using Cox‐proportional hazard modeling followed by treatment‐specific ...

Abstract

Objective

Seizure forecasting may provide patients with timely warnings to adapt their daily activities and help clinicians deliver more objective, personalized treatments. Although recent work has convincingly demonstrated that seizure risk assessment is in principle possible, these early approaches relied largely on complex, often invasive setups including intracranial electrocorticography, implanted devices, and multichannel electroencephalography, and required patient‐specific adaptation or learning to perform optimally, all of which limit translation to broad clinical application. To facilitate broader adaptation of seizure forecasting in clinical ...

Abstract

Objective

Previous studies have shown the effectiveness of manual‐based treatment for psychogenic nonepileptic seizures (PNES), but access to mental health care still remains a problem, especially for patients living in areas without medical professionals who treat conversion disorder. Thus, we evaluated patients treated with cognitive behavioral therapy–informed psychotherapy for seizures with clinical video telehealth (CVT). We evaluated neuropsychiatric and seizure treatment outcomes in veterans diagnosed with PNES seen remotely via telehealth. We hypothesized that seizures and comorbidities will improve with treatment.

Methods

This ...