Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Mutations in the genes encoding neuronal ion channels are a common cause of Mendelian neurological diseases. We sought to identify novel de novo sequence variants in cases with early infantile epileptic phenotypes and neurodevelopmental anomalies.

Methods

Following clinical diagnosis, we performed whole exome sequencing of the index cases and their parents. Identified channel variants were expressed in Xenopus oocytes and their functional properties assessed using two-electrode voltage-clamp.

Results

We identified novel de novo variants in KCNA6 in four unrelated individuals variably affected with neurodevelopmental ...

Abstract

Objectives

Minimally invasive MR-guided laser interstitial thermal therapy (MRgLITT) has been proposed as an alternative to open epilepsy surgery, to address concerns regarding the risk of open surgery. Our primary hypothesis was seizure freedom one-year after MRgLITT was noninferior to open surgery in children with drug-resistant epilepsy (DRE). The secondary hypothesis was MRgLITT has fewer complications and shorter hospitalization than surgery. The primary objective was to compare seizure outcome of MRgLITT to open surgery in children with DRE. The secondary objective ...

Abstract

Objective

To characterize somatic symptoms and related disorders (SSD) in epilepsy.

Methods

Adults with epilepsy under active follow-up at a tertiary epilepsy centre were consecutively enrolled. The diagnosis of SSD was performed by an experienced psychologist based on the structured clinical interview for DSM-5. Detailed social/demographic data, epilepsy features, psychiatric features, life quality, disability and economic burden were collected and compared between people with SSD and those without. Bodily distress syndrome checklist (BDS-checklist), Somatic Symptom Disorder–B Criteria Scale (SSD-12), Patient Health Questionnaire-9 (PHQ-9) ...

Abstract

Objective

The objectives of this study were to assess the accuracy of parental seizure detection in infants with antenatally diagnosed tuberous sclerosis complex (TSC), and to document the total seizure burden (clinical and subclinical) in those patients who met criteria for prolonged EEG recording.

Methods

Consecutive infants at a single institution with antenatally diagnosed TSC who met criteria for prolonged video-EEG (vEEG) were recruited to this study. The vEEG data was reviewed and when a seizure was identified on EEG, the video and ...

Abstract

Objective

Persons with drug-resistant epilepsy may benefit from epilepsy surgery and should undergo presurgical testing to determine potential candidacy and appropriate intervention. Institutional expertise can influence use and availability of evaluations and epilepsy surgery candidacy. This census survey study aims to examine the influence of geographic region and other center characteristics on presurgical testing for medically intractable epilepsy.

Methods

We analyzed annual report and supplemental survey data reported in 2020 from 206 adult epilepsy center directors and 136 pediatric epilepsy center directors in ...

Abstract

Objective

The risk of seizure following BNT162b2 and CoronaVac vaccinations has been sparsely investigated. This study aimed to evaluate this association.

Method

Patients who had their first seizure-related hospitalization between February 23, 2021 and January 31, 2022, were identified in Hong Kong. All seizure episodes happening on the day of vaccination (day 0) were excluded, since clinicians validated that most of the cases on day 0 were syncopal episodes. Within-individual comparison using a modified self-controlled case series analysis was applied to estimate the ...

Abstract

Objective

Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.

Methods

In this multicenter retrospective cohort study, we included 267 EEM patients from 9 countries. Data about electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy and epilepsy syndromes in relatives ...

Abstract

Anti-Hu–associated neurologic autoimmunity most often occurs in the context of small cell lung cancer and typically presents with peripheral neuropathy, cerebellar ataxia, and/or limbic encephalitis. Extra-limbic encephalitis causing seizures is a rare disease manifestation, with only sparse reports in the literature. Herein we present a patient with seizures in anti-Hu–associated extra-limbic encephalitis, and review the literature for other cases to more fully characterize this entity. Among 27 patients we identified, the median age was 46 years (range: 2–69 years) and 18 of ...

Abstract

Objective

Childhood trauma has been implicated as a risk factor for the aetiology of psychogenic non-epileptic seizures (PNES). Relatively little attention has been paid to whether profiles of specific trauma types differ between patients with epilepsy and PNES. Investigating childhood trauma profiles in these patient groups may identify psychological vulnerabilities the predispose to developing PNES, and aid early diagnoses, prevention, and treatment.

Methods

Data were collected from two cohorts (n
_{Retrospective}
=203; n
_Prospective=209) admitted to video-EEG monitoring units in Melbourne Australia. The ...

Abstract

Objective

Visual review of intracranial EEG (iEEG) is often an essential component for defining the zone of resection for epilepsy surgery. Unsupervised approaches using machine and deep learning are being employed to identify seizure onset zones (SOZ). This prompts a more comprehensive understanding of the reliability of visual review as a reference standard. We sought to summarize existing evidence on the reliability of visual review of iEEG in defining the SOZ for patients undergoing surgical work-up and understand its implication on ...