Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Our objective was to undertake a systematic review ascertaining the accuracy of using administrative healthcare data to identify epilepsy cases. We searched MEDLINE and Embase from 01/01/1975 to 03/07/2018 for studies evaluating the diagnostic accuracy of routinely collected healthcare data in identifying epilepsy cases. Any disease coding system in use since the International Classification of Diseases, Ninth Revision (ICD‐9) was permissible. Two authors independently screened studies, extracted data, and quality‐assessed studies. We assessed positive predictive value (PPV), sensitivity, negative predictive ...

Abstract

Objective

We aimed to describe the extent of neurodevelopmental impairments and identify the genetic etiologies in a large cohort of patients with epilepsy with myoclonic atonic seizures (MAE).

Methods

We deeply phenotyped MAE patients for epilepsy features, intellectual disability, autism spectrum disorder, and attention‐deficit/hyperactivity disorder using standardized neuropsychological instruments. We performed exome analysis (whole exome sequencing) filtered on epilepsy and neuropsychiatric gene sets to identify genetic etiologies.

Results

We analyzed 101 patients with MAE (70% male). The median age of seizure onset was 34 months (range ...

Abstract

Vagus nerve stimulation (VNS) is often used for patients with drug‐resistant epilepsy. Although this intervention may improve seizure control and mood, a number of factors must be considered when patients with VNS near end of life. We reviewed relevant literature to create a proposed guideline for management of patients with VNS in palliative care and after death. VNS has multiple possible side effects, including cough and swallowing difficulties. For patients with neurologic disease in palliative care, such adverse effects can ...

Abstract

Objective

Activity‐dependent changes have been reported in animal models and in human epileptic specimens and could potentially be used as tissue biomarkers to evaluate the propensity of a tissue to generate seizure activity. In this context, cAMP‐response element binding protein (CREB) activation was specifically reported in human epileptic foci and related mainly to interictal spike activity. To get further insights into CREB activation in human epilepsy, we analyzed pCREB expression on brain tissue samples from patients who underwent surgery for drug‐resistant ...

Abstract

Objective

To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA )‐related congenital disorder of glycosylation (PIGA‐CDG) and evaluate genotype‐phenotype correlations.

Methods

Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches.

Results

Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA‐CDG spans from a ...

Abstract

Objective

Movement‐based wearable sensors are used for detection of convulsive seizures. The identification of the absence of motion following a seizure, known as post‐ictal immobility (PI), may represent a potential additional application of wearables. PI has been associated with potentially life‐threatening complications and with sudden unexpected death in epilepsy (SUDEP). We aimed to assess whether wearable accelerometers (ACCs) could be used as a digital marker of PI.

Method

Devices with embedded ACCs were worn by patients admitted to an epilepsy monitoring unit. Participants ...

Abstract

Objective

To evaluate the potential impact of concomitant clobazam (CLB) use on the efficacy of cannabidiol (CBD) treatment in patients with Dravet syndrome and Lennox‐Gastaut syndrome using meta‐analytical techniques.

Methods

We searched for randomized, placebo‐controlled, single‐ or double‐blinded trials. The proportion of patients who achieved ≥50% reduction from baseline in seizure frequency during the treatment period was assessed according to CLB status. Risk ratios (RRs) with 95% confidence intervals (CIs) were estimated.

Results

Four trials were included and enrolled 714 participants, 429 for the add‐on ...

Abstract

Four pivotal randomized placebo‐controlled trials have demonstrated that adjunctive therapy with cannabidiol (CBD) improves seizure control in patients with Dravet syndrome (DS) and Lennox‐Gastaut syndrome (LGS). Between 47% and 68% of patients allocated to CBD treatment in these trials were receiving clobazam (CLB), which shows complex interactions with CBD resulting, in particular, in a 3.4‐ to 5‐fold increase in plasma concentration of the active metabolite norclobazam. This raises concern as to the role played by these interactions in determining the ...

Abstract

Objective

Ketogenic diet therapy (KDT) is a group of high‐fat, low‐carbohydrate diets used as an effective treatment option for children and adults with drug‐resistant epilepsy. There is limited research on the efficacy of KDT in infants, where there is the highest incidence of onset of the epilepsy. We aimed to systematically review studies that have reported on response to KDT in infants with epilepsy.

Methods

An online comprehensive literature search was performed, including studies that provided seizure frequency data for at least one ...

Abstract

Objective

Temporal lobe epilepsy (TLE) is the most common drug‐resistant epilepsy in adults. Although it is commonly related to hippocampal pathology, increasing evidence suggests structural changes beyond the mesiotemporal lobe. Functional anomalies and their link to underlying structural alterations, however, remain incompletely understood.

Methods

We studied 30 drug‐resistant TLE patients and 57 healthy controls using multimodal magnetic resonance imaging (MRI) analyses. All patients had histologically verified hippocampal sclerosis and underwent postoperative imaging to outline the extent of their surgical resection. Our analysis leveraged ...