Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Familial adult myoclonus epilepsy (FAME) also described as Benign Adult Familial Myoclonus Epilepsy (BAFME) is a high-penetrant autosomal dominant condition featuring cortical myoclonus of varying frequency and occasional/rare convulsive seizures.

In this update we provide a detailed overview of the main neurophysiological findings so far reported in patients with FAME/BAFME. After reviewing the diagnostic contribution of each neurophysiological technique, we discuss the possible mechanisms underlying cortical hyperexcitability and suggest the involvement of more complex circuits engaging cortical and subcortical structures, such ...

Abstract

Objective

Understanding fluctuations in seizure severity within individuals is important for determining treatment outcomes and responses to therapy, as well as assessing novel treatments for epilepsy. Current methods for grading seizure severity rely on qualitative interpretations from patients and clinicians. Quantitative measures of seizure severity would complement existing approaches to electroencephalographic (EEG) monitoring, outcome monitoring, and seizure prediction. Therefore, we developed a library of quantitative EEG markers that assess the spread and intensity of abnormal electrical activity during and after seizures.

Methods

We ...

Abstract

Hypothalamic hamartomas (HHs) are uncommon benign lesions of neuronal and glial cells in the inferior hypothalamus. They have been linked to epilepsy, premature puberty, and cognitive and behavioral impairment. We report a 13-year-old patient who was referred to a multidisciplinary treatment team for epilepsy with 6 months of convulsive seizures. Sustained seizure control was not achieved despite the use of multiple antiepileptic agents. He had been plagued by unexplained paroxysmal bursts of laughter for >11 years. Video-electroencephalography showed diffuse epileptic discharges ...

Abstract

Focal and generalized epilepsies are associated with robust differences in MRI measures of subcortical structures, grey matter and white matter. However, it is unknown whether such structural brain differences reflect the cause or consequence of epilepsy or its treatment. Analyses of common genetic variants underlying both common epilepsy and variability in structural brain measures can give further insights, since such inherited variants are not influenced by disease or treatment. Here, we performed genetic correlation analyses using data from the largest ...

Abstract

Objective

Large aperiodic bursts of activations named neuronal avalanches have been used to characterize whole-brain activity, as their presence typically relates to optimal dynamics. Epilepsy is characterized by alterations of large-scale brain network dynamics. Here, we exploited neuronal avalanches to characterize differences in the electroencephalography (EEG) basal activity, free from seizures and/or interictal spikes, between patients with temporal lobe epilepsy (TLE) and matched controls.

Method

We defined neuronal avalanches as starting when the z-scored source-reconstructed EEG signals crossed a specific threshold in any ...

Abstract

Status epilepticus (SE) is one of the most common neurological emergencies in children. To date, there is no definitive evidence to guide treatment of SE refractory to benzodiazepines. The main objectives of treatment protocols are to expedite therapeutic decisions and to use fast and short-acting medications without significant adverse effects. Protocols differ among institutions and most frequently valproate, phenytoin, and levetiracetam are used as second line treatment. After failure of first- and second-line medications, admission to the intensive care unit ...

Abstract

Objective

There are three neurostimulation devices available to treat generalized epilepsy: vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS). However, the choice between them is unclear due to lack of head-to-head comparisons. A systematic comparison of neurostimulation outcomes in generalized epilepsy has not been performed previously. The goal of this meta-analysis was to determine whether one of these devices is better than the others to treat generalized epilepsy.

Methods

Following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) ...

Abstract

Sudden unexpected death in epilepsy (SUDEP) is a major cause of death in people with epilepsy (PWE). Postictal apnea leading to cardiac arrest is the most common sequence of terminal events in witnessed cases of SUDEP, and postconvulsive central apnea has been proposed as a potential biomarker of SUDEP susceptibility. Research in SUDEP animal models has led to the serotonin and adenosine hypotheses of SUDEP. These neurotransmitters influence respiration, seizures, and lethality in animal models of SUDEP, and are implicated ...

Abstract

Familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy (FAME/BAFME) has emerged as a specific and recognizable epilepsy syndrome with autosomal dominant inheritance found around the world. Here, we trace the history of this syndrome. Initially, it was likely conflated with other familial myoclonus epilepsies, especially the progressive myoclonus epilepsies. As the progressive myoclonus epilepsies became better understood clinically and genetically, this group began to stand out and was first recognized as such in Japan. Subsequently, families were recognized around the ...

Abstract

Objective

The aim is to report the performance of an electroencephalogram (EEG) seizure-detector algorithm on data obtained with a wearable device (WD) in patients with focal refractory epilepsy and their experience.

Methods

Patients used a WD, the Sensor Dot (SD), to measure two channels of EEG using dry electrode patches during presurgical evaluation and at home for up to 8 months. An automated seizure detection algorithm flagged EEG regions with possible seizures, which we reviewed to evaluate the algorithm’s diagnostic yield. In addition, we ...