Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

OBJECTIVE

A realistic seizure diary simulator is currently unavailable for many research needs, including clinical trial analysis, and evaluation of seizure detection and seizure forecasting tools. In recent years, important statistical features of seizure diaries have been characterized. These include: (1) heterogeneity of individual seizure frequencies, (2) the relation between average seizure rate and standard deviation, (3) multiple risk cycles, (4) seizure clusters, and (5) limitations on inter-seizure intervals. The present study unifies these features into a single model.

METHODS

Our approach, Cyclic ...

Abstract

Objective

Progressive myoclonic epilepsy type 1 (EPM1) is caused by biallelic alterations in the CSTB gene, most commonly dodecamer repeat expansions. Whilst transcranial magnetic stimulation (TMS)-induced long-interval intracortical inhibition (LICI) was previously reported to be normal in EPM1, short-interval intracortical inhibition (SICI) was reduced. We explored the association between these measures and clinical and genetic features in separate group of patients with EPM1.

Methods

TMS combined with electromyography was performed under neuronavigation. LICI induced with inter-stimulus interval (ISI) of 100ms, and SICI with ...

Abstract

Deep brain stimulation (DBS) and responsive neurostimulation (RNS) use high frequency stimulation (HFS) per the pivotal trials and manufacturer-recommended therapy protocols. However, not all patients respond to HFS. In this retrospective case series, 10 patients implanted with the RNS System were programmed with Low Frequency Stimulation (LFS) to treat their seizures; 9 of these patients were previously treated with HFS (100 Hz or greater). LFS was defined as frequency less than 10 Hz. Burst duration was increased to at least ...

Abstract

Objective

To assess if early clinical and electroencephalographic(EEG) features predict later seizure development in infants with hypoxic-ischaemic encephalopathy(HIE).

Methods

Clinical and EEG parameters<12 hours of birth from infants with HIE across eight European Neonatal Units were used to develop seizure prediction models. Clinical parameters included: intrapartum complications, foetal distress, gestational age, delivery mode, gender, birth weight, Apgar scores, assisted ventilation, cord pH, blood gases. Earliest EEG hour provided a qualitative analysis (discontinuity, amplitude, asymmetry/asynchrony, sleep-wake cycling-SWC) and a quantitative analysis (power, discontinuity, spectral ...

Abstract

Objective

This study was undertaken to identify molecular mechanisms in brain tissue of Rasmussen encephalitis (RE) when compared to people with non-RE epilepsy (PWE) and control cases using whole exome sequencing (WES), RNAseq, and proteomics.

Methods

Frozen brain tissue (ages = 2–19 years) was obtained from control autopsy (n = 14), surgical PWE (n = 10), and surgical RE cases (n = 27). We evaluated WES variants in RE associated with epilepsy, seizures, RE, and human leukocyte antigens (HLAs). Differential expression was evaluated by RNAseq (adjusted p < .05) and label-free quantitative mass spectrometry ...

Abstract

Acquisition of drug-sensitivity profiles is challenging in rare epilepsies. Anecdotal evidence suggests that antiseizure medications that block sodium channels as their primary mechanism of action exacerbate seizures in HCN1 developmental and epileptic encephalopathies (DEEs), whereas sodium valproate is effective for some patients. The Hcn1 M294L heterozygous knock-in (Hcn1^M294L) mouse carries the homologue of the recurrent gain-of-function HCN1 M305L pathogenic variant and recapitulates the seizure and some behavioral phenotypes observed in patients. We used this mouse model to study drug efficacy ...

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 nine countries. Data on electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy, and epilepsy syndromes in relatives ...

Abstract

Seizures often originate in epileptogenic foci. Between seizures (interictally), these foci and some of the surrounding tissue often show low signals with ¹⁸fluorodeoxyglucose (FDG) positron emission tomography (PET) in many epileptic patients, even when there are no radiologically detectable structural abnormalities. Low FDG-PET signals are thought to reflect glucose hypometabolism. Here, we review knowledge about metabolism of glucose and glycogen and oxidative stress in people with epilepsy and in acute and chronic rodent seizure models. Interictal brain glucose levels are ...

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 ...