Epilepsia. Official Journal of the International League Against Epilepsy

Summary

Objective

Epilepsy is highly prevalent among patients with intellectual disability (ID), and seizure control is often difficult. Identification of the underlying etiology in this patient group is important for daily clinical care. We assessed the diagnostic yield of whole exome sequencing (WES). In addition, we evaluated which clinical characteristics influence the likelihood of identifying a genetic cause and we assessed the potential impact of the genetic diagnosis on (antiepileptic) treatment strategy.

Methods

One hundred patients with both unexplained epilepsy and (borderline) ID (intelligence ...

Summary

Objective

To assess the benefits and harms of cannabis‐based products for pediatric epilepsy.

Methods

We identified in this living systematic review randomized controlled trials (RCTs) and nonrandomized studies (NRSs) involving children with epilepsy treated with cannabis‐based products. We searched MEDLINE, Embase, PsycINFO, Cochrane Library, and gray literature (April 25, 2018). The primary outcome was seizure freedom; secondary outcomes were seizure frequency (total, ≥50% reduction), quality of life, sleep, status epilepticus, death, gastrointestinal adverse events, and visits to the emergency room. Data were pooled ...

Summary

Objective

After discovering the association between the HLA‐B*15:02 allele and carbamazepine‐related severe cutaneous adverse reactions (SCARs), particularly in Southeastern Asian populations, clinical strategies to prevent carbamazepine‐related SCARs have changed. We aimed to investigate 10‐year trends in carbamazepine use and carbamazepine‐related SCARs and to examine the patterns and determinants of HLA‐B*15:02 screening in Taiwan.

Methods

A nationwide study was performed using Taiwan’s National Health Insurance Research Database. In the first part of the study, new users of carbamazepine were included, and those who experienced ...

Summary

Objective

To gain insight into the mechanisms underlying KCNQ2 encephalopathy by examining the electrophysiologic properties of mutant Kv7.2 channels in different multimeric configurations.

Methods

We analyzed the genotype‐phenotype relationship in 4 patients with KCNQ2 encephalopathy and performed electrophysiologic analysis of M‐currents mediated by homomeric Kv7.2 or heteromeric Kv7.2/Kv7.3 channels.

Results

Negligible or no current was recorded in cells expressing homomeric E130K, W270R, or G281R de novo mutants, and it was reduced by more than 90% for the L243F maternally inherited mutant. The E130K and G281R ...

Summary

Objective

In 2015, the International League Against Epilepsy (ILAE) proposed a new definition of status epilepticus (SE): 5 minutes of ongoing seizure activity to diagnose convulsive SE (CSE, ie, bilateral tonic–clonic SE) and 10 minutes for focal SE and absence SE, rather than the earlier criterion of 30 minutes. Based on semiology, several types of SE with prominent motor phenomena at any time (including CSE) were distinguished from those without (ie, nonconvulsive SE, NCSE). We present the first population‐based incidence study applying the new ...

Summary

Objective

The epileptogenic network underlying secondarily generalized tonic–clonic seizures (sGTCS) in mesial temporal lobe epilepsy (mTLE) is not well understood. Here, we investigated alterations in the probabilistic hippocampal‐thalamic pathway (pHTP) underlying sGTCS using diffusion tensor imaging and resting‐state functional magnetic resonance imaging in a cohort of TLE patients with hippocampal sclerosis (HS).

Methods

We consecutively recruited 51 unilateral TLE‐HS patients (26 with and 25 without sGTCS) and 22 healthy controls. Probabilistic tractography was used to track the pHTP. Raw fractional anisotropy (FA) and ...

Summary

Objective

Long‐term recording with intracerebral electrodes is commonly utilized to identify brain areas responsible for seizure generation (epileptogenic zone) and to tailor therapeutic surgical resections in patients with focal drug‐resistant epilepsy. This invasive diagnostic procedure generates a wealth of data that contribute to understanding human epilepsy. We analyze intracerebral signals to identify and classify focal ictal patterns.

Methods

We retrospectively analyzed stereo‐electroencephalographic (EEG) data in a cohort of patients either cryptogenic (magnetic resonance imaging negative) or presenting with noncongruent anatomoelectroclinical data. A computer‐assisted ...

Summary

Objective

The European Union–funded E‐PILEPSY network (now continuing within the European Reference Network for rare and complex epilepsies [EpiCARE]) aims to harmonize and optimize presurgical diagnostic procedures by creating and implementing evidence‐based guidelines across Europe. The present study evaluates the current evidence on the diagnostic accuracy of long‐term video‐electroencephalographic monitoring (LTM) in identifying the epileptogenic zone in epilepsy surgery candidates.

Methods

MEDLINE, Embase, CENTRAL, and ClinicalTrials.gov were searched for relevant articles. First, we used random‐effects meta‐analytical models to calculate pooled estimates of sensitivity ...

Summary

Objective

To study associations of the severity of impairment in childhood neurocognition (NC) with long‐term mortality and complete seizure remission.

Methods

A population‐based cohort of 245 subjects with childhood onset epilepsy was followed up for 50 years (median = 45, range = 2‐50). Childhood NC before age 18 years was assessed as a combination of formal intelligence quotient scores and functional criteria (school achievement, working history, and psychoneurological development). Impaired NC was categorized with respect to definitions of intellectual functioning in International Classification ...