Epilepsia. Official Journal of the International League Against Epilepsy

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 ...

Abstract

Objective

To compare the severity of psychological distress between patients with epilepsy and healthy controls during the COVID‐19 outbreak in southwest China, as well as identify potential risk factors of severe psychological distress among patients with epilepsy.

Methods

This cross‐sectional case‐control study examined a consecutive sample of patients older than 15 years treated at the epilepsy center of West China Hospital between February 1 and February 29, 2020. As controls, sex‐ and age‐matched healthy visitors of inpatients (unrelated to the patients) were also enrolled ...

Abstract

This study aims at defining objective parameters reflecting the severity of peri‐ictal autonomic changes and their relation to post‐ictal generalized electroencephalography (EEG) suppression (PGES), with the view that such changes could be detected by wearable seizure detection systems and prove useful to assess the risk of sudden unexpected death in epilepsy (SUDEP). To this purpose, we assessed peri‐ictal changes in heart rate variability (HRV) and correlated them with seizure duration, intensity of electromyography‐based ictal muscle activity, and presence and duration ...

Abstract

Objective

To apply unsupervised machine learning to patient‐reported outcomes to identify clusters of epilepsy patients exhibiting unique psychosocial characteristics.

Methods

Consecutive outpatients seen at the Calgary Comprehensive Epilepsy Program outpatient clinics with complete patient‐reported outcome measures on quality of life, health state valuation, depression, and epilepsy severity and disability were studied. Data were acquired at each patient’s first clinic visit. We used k‐means++ to segregate the population into three unique clusters. We then used multinomial regression to determine factors that were statistically associated ...

Abstract

Objective

Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In the present study, we sought to investigate a cohort of adult patients with epilepsy, to determinate the diagnostic yield and explore the gain of personalized treatment approaches in adult patients.

Methods

Two hundred patients (age span = 18‐80 years) referred for diagnostic gene panel testing at the Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. The medical records of ...