Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure-induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and GABRA1 have been reported in individuals with photosensitivity and eyelid myoclonia, but whether other genes are also involved, or a single gene is uniquely linked with ...

Abstract

Collaborative efforts between basic scientists, engineers, and clinicians are enabling translational epileptology. In this article, we summarize the recent advances presented at the International Conference for Technology and Analysis of Seizures (ICTALS 2022): (1) novel developments of structural magnetic resonance imaging; (2) latest electroencephalography signal-processing applications; (3) big data for the development of clinical tools; (4) the emerging field of hyperdimensional computing; (5) the new generation of artificial intelligence (AI)–enabled neuroprostheses; and (6) the use of collaborative platforms to facilitate ...

Abstract

A critical question regarding how focal seizures start is whether we can identify particular cell classes that drive the pathological process. This was the topic for debate at the recent International Conference for Technology and Analysis of Seizures (ICTALS) meeting (July 2022, Bern, CH) that we summarize here. The debate has been fueled in recent times by the introduction of powerful new ways to manipulate subpopulations of cells in relative isolation, mostly using optogenetics. The motivation for resolving the debate ...

Abstract

Objective

Copy number variants (CNVs) contribute to genetic risk and genetic etiology of both rare and common epilepsies. While many studies have explored the role of CNVs in sporadic or severe cases, fewer have been done in familial generalized and focal epilepsies.

Methods

We analyzed exome sequence data from 267 multiplex families and 859 first-degree relative pairs with a diagnosis of genetic generalized epilepsies (GGE) or non-acquired focal epilepsies (NAFE) to predict CNVs. Validation and segregation studies were performed using an orthogonal method ...

Abstract

Abnormal patterns identified on electroencephalogram (EEG) are one of the primary diagnostic tests for epilepsy. However, epidemiological studies have established that both benign and epileptiform abnormalities (EA), occur in the EEG of non-epileptic, seizure-free people as well. The reported rates of EAs in non-epileptic, seizure-free populations vary, and the true prevalence is unknown. The primary objective of this systematic review and meta-analysis was to estimate the overall prevalence of EAs in the EEG of people without a history of seizures. ...

Abstract

In addition to the primary aim of seizure freedom, a key secondary aim of pediatric epilepsy surgery is to stabilize and, potentially, optimize cognitive development. Although the efficacy of surgical treatment for seizure control has been established, the long-term intellectual and developmental trajectories are yet to be delineated. We conducted a systematic review and meta-analysis of studies reporting pre- and postsurgical intelligence or developmental quotients (IQ/DQ) of children with focal lesional epilepsy aged ≤18 years at epilepsy surgery and assessed at ...

Abstract

Objective

The increasing implementation of electronic health records allows the use of advanced text-mining methods for establishing new patient-phenotypes and stratification, and for revealing outcome correlations. In this study we aimed to explore the electronic narrative clinical reports of a cohort of patients with Dravet Syndrome (DS) longitudinally followed at our center, to identify the capacity of this methodology to retrace natural history of DS during the early years.

Methods

We used a document-based clinical data warehouse employing Natural Language Processing to recognize ...

Abstract

Objective

Concern about climate change among the general public is acknowledged by surveys. The health care sector must play its part in reducing greenhouse gas emissions and adapting to a changing climate, which will require the support of its stakeholders including those with epilepsy, who may be especially vulnerable. It is important to understand this community’s attitudes and concerns about climate change and societal responses.

Methods

A survey was made available to more than 100 000 people among a section of the neurological community ...

Abstract

Dravet Syndrome (DS) is a rare developmental and epileptic encephalopathy. Infants with DS are especially vulnerable to the detrimental effects of prolonged and frequent seizures on the development. Fenfluramine (FFA) is approved for the treatment of DS in patients from the age of 2 years and above.

This study aims to evaluate the safety and efficacy of FFA in patients with DS younger than 2 years of age.

We analyzed safety, tolerability, seizure and neuropsychological outcome in a real-world setting. Developmental profile was investigated ...

Abstract

Objectives

Corpus callosotomy (CC) is used to reduce seizures, primarily in patients with generalized drug resistant epilepsy (DRE). The invasive nature of the procedure contribute to underutilization despite potential superiority to other palliative procedures. The goal of this study was to use a multi-institutional epilepsy surgery database to characterize the use of CC across participating centers.

Methods

Data was acquired from the Pediatric Epilepsy Research Consortium (PERC) Surgery Database, a prospective observational study collecting data on children 0-18 years referred for surgical evaluation of ...