Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A, and RAPGEF2). FAME occurs worldwide; however, repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic ...

Abstract

Objective

Epilepsy is a neurological disease that affects approximately 50 million people worldwide, 30% of which suffer from refractory epilepsy and recurring seizures, which may contribute to higher anxiety levels and poorer quality of life. Seizure detection may contribute to addressing some of the challenges associated with this condition, by providing information to health professionals regarding seizure frequency, type, and/or location in the brain, thereby improving diagnostic accuracy and medication adjustment, and alerting caregivers or emergency services of dangerous seizure episodes. ...

Abstract

Objective:

Stereoelectroencephalography (SEEG)-guided radiofrequency ablation (RFA) is increasingly being used as a treatment for drug-resistant localization-related epilepsy. The aim of this study is to analyze the successes and failures using RFA and how response correlates with surgical epilepsy treatment outcomes.

Methods:

We retrospectively reviewed 62 patients who underwent RFA via SEEG electrodes. After excluding 5, the remaining 57 were classified into subgroups based on procedures and outcomes. Forty patients (70%) underwent a secondary surgical procedure, of whom 32 were delayed: 26 laser interstitial ...

Abstract

Objective

Gain of function variants in the sodium-activated potassium channel KCNT1 have been associated with pediatric epilepsy disorders. Here, we systematically examine a spectrum of KCNT1 variants and establish their impact on channel function in multiple cellular systems.

Methods

KCNT1 variants identified from published reports and genetic screening of pediatric epilepsy patients were expressed in Xenopus oocytes and HEK cell lines. Variant impact on current magnitude, current–voltage relationships, and sodium ion modulation were examined.

Results

We determined basic properties of KCNT1 in Xenopus oocyte and ...

Abstract

Objectives

The purpose of this longitudinal cohort study was to examine the variables that influence health-related quality of life (HRQOL) after epilepsy surgery in children. We examined whether treatment type (surgical vs medical therapy) and seizure control are related to other variables that have been shown to influence HRQOL, namely depressive symptoms in children with epilepsy or their parents, and the availability of family resources.

Methods

In total, 265 children with drug-resistant epilepsy were recruited from eight epilepsy centers across Canada at the ...

Abstract

Objective

The decision to initiate treatment in patients with a first unprovoked seizure remains controversial. Studies have reported a recurrence rate ranging from 21-50%, but most have included patients with different etiologies, EEG findings, and seizure types. This study aimed to determine the risk of recurrence in patients with a first unprovoked generalized tonic-clonic (GTC) seizure with evidence of generalized spike-wave discharges (GSWD) on EEG and compare the efficacy of antiseizure medications (ASM) in preventing recurrence.

Methods

This prospective study included consecutive patients ...

Abstract

Variable phenotypes, including developmental encephalopathy with (DEE) or without seizures and myoclonic epilepsy and ataxia due to potassium channel mutation, are caused by pathogenetic variants in KCNC1, encoding for Kv3.1 channel subunits. In vitro, channels carrying most KCNC1 pathogenic variants display loss-of-function features. Here, we describe a child affected by DEE with fever-triggered seizures, caused by a novel de novo heterozygous missense KCNC1 variant (c.1273G>A; V425M). Patch-clamp recordings in transiently transfected CHO cells revealed that, compared to wild-type, Kv3.1 V425M ...

Abstract

Objective

In the management of epilepsy, there is an ongoing quest to discover new biomarkers to improve the diagnostic process, the monitoring of disease progression, and the evaluation of treatment responsiveness. In this regard, biochemical traceability in biofluids is notably absent in contrast to other diseases. In the present preclinical study, we investigated the potential of neurofilament light chain (NfL) as possible diagnostic and response fluid biomarker for epilepsy.

Methods

We gained insights into NfL levels during the various phases of the intrahippocampal ...

Abstract

Objective

To determine the short and longer-term impact of sociodemographic disadvantage on the emotional-behavioral status of youth with new-onset epilepsy and their unaffected siblings at the time of diagnosis and the subsequent 3 years.

Methods

312 youth with newly diagnosed epilepsies and 223 unaffected siblings, age 6-16 years, were independently assessed regarding their emotional and behavioral status by their parents and teachers at baseline, at 18 and at 36 months later; and the youth with seizures also completed self-report measures of depression, anxiety and hostility ...

Abstract

Objective

Neurosurgery is a safe and effective form of treatment for select children with drug-resistant epilepsy. Still, there is concern that it remains underutilized, and that seizure freedom rates have not improved over time. We investigated referral and surgical practices, patient characteristics, and post-operative outcomes over the past two decades.

Methods

We performed a retrospective cohort study of children referred for epilepsy surgery at a tertiary center between 2000 and 2018. We extracted information from medical records and analyzed temporal trends using regression ...