Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME. Imaging findings, including functional magnetic resonance imaging, are in line with a cortical origin of involuntary tremulous movements (cortical myoclonic tremor) and indicate a complex pattern of cerebellar functional connectivity. Scarce neuropathological reports, mainly from a single family, provide evidence of morphological changes in the Purkinje cells. Cerebellar ...

Abstract

Objective

Focal epilepsy is thought to be a network disease, in which epileptiform activity can spread non-contiguously through the brain via highly interconnected nodes, or hubs, within existing networks. Animal models confirming this hypothesis are scarce, and our understanding of how distant nodes are recruited is also lacking. Whether interictal spikes also create and reverberate through a network is not well understood.

Methods

We injected bicuculline into the S1 barrel cortex and employed multisite local field potential (LFP) and Thy-1 and PV-cell mesoscopic ...

SUMMARY

Objectives

Major objectives of this work were to: (i) substantiate the 24-hour pattern in the occurrence of childhood febrile seizures (CFSs) by a novel time series meta-analysis of past reported time-of-day data and (ii) discuss its potential circadian rhythm-dependencies.

Methods

Comprehensive search of the published literature retrieved eight articles that met inclusion criteria. Three investigations were conducted in Iran, two in Japan, and one each in Finland, Italy, and South Korea, representing a total of 2461 mostly simple febrile seizures of children who ...

Abstract

Well-designed placebo-controlled clinical trials are critical to the development of novel treatments for epilepsy, but their design has not changed for decades. Patients, clinicians, regulators, and innovators all have concerns that recruiting for trials is challenging, in part, due to the static design of maintaining participants for long periods on add-on placebo when there are an increasing number of options for therapy. A traditional trial maintains participants on blinded treatment for a static period (e.g., 12 weeks of maintenance), during which ...

Abstract

Objective

We aimed to identify cortico-thalamic areas and electrical stimulation paradigms that optimally enhance breathing.

Methods

Twenty-nine patients with medically intractable epilepsy were prospectively recruited in an Epilepsy Monitoring Unit while undergoing stereoelectroencephalography evaluation. Direct electrical stimulation in cortical and thalamic regions was carried out using low (<1Hz) and high (≥10Hz) frequencies, and low (<5mA) and high (≥5mA) current intensities, with pulse width of 0.1 milliseconds. Electrocardiography, arterial oxygen saturation (SpO₂), end-tidal carbon dioxide (ETCO₂), oronasal airflow, and abdominal and thoracic plethysmography were ...

Abstract

Objective

To evaluate perampanel (PER) when used under real-world conditions to treat people with idiopathic generalized epilepsy (IGE) included in the PERMIT study.

Methods

The multinational, retrospective, pooled analysis PERMIT explored the use of PER in people with focal and generalized epilepsy treated in clinical practice across 17 countries. This subgroup analysis included PERMIT participants with IGE. Timepoints for retention and effectiveness measurements were 3, 6, and 12 months (last observation carried forward, defined as ‘last visit’, was also applied to effectiveness). Effectiveness ...

Abstract

Objective

Completeness as a predictor of seizure freedom is broadly accepted in epilepsy surgery. We focused on the requirements for a complete hemispherotomy and hypothesized that the disconnection of the insula contributes to a favorable postoperative seizure outcome. We analyzed surgical and non-surgical predictors influencing long-term seizure outcome before and after a modification of our hemispherotomy technique.

Methods

We retrospectively studied surgical procedures, electro-clinical parameters, MRI results, and follow-up data in all children who had undergone hemispherotomy between 2001 and 2018 at our ...

Abstract

Objective

In this post hoc analysis, we aimed to assess seizure-free days as a potential new outcome measure to use in randomized placebo-controlled trials (RCTs) of patients with Lennox–Gastaut syndrome (LGS).

Methods

In two phase 3 RCTs (GWPCARE3, GWPCARE4), eligible patients were randomized to receive plant-derived highly purified cannabidiol (CBD; Epidiolex® in the USA; 100 mg/mL oral solution) at 10 mg/kg/day (CBD10; GWPCARE3 only), at 20 mg/kg/day (CBD20), or matched placebo. The treatment period comprised a 2-week dose titration and a 12-week maintenance period. This post ...

Abstract

Objective

We aimed to assess treatment response of infantile-onset epileptic spasms (ES) in CDKL5 Deficiency Disorder (CDD) vs. other etiologies.

Methods

We evaluated patients with ES from the CDKL5 Centers of Excellence and the National Infantile Spasms Consortium (NISC), with onset from 2 months to 2 years, treated with adrenocorticotropic hormone (ACTH), oral corticosteroids, vigabatrin, and/or ketogenic diet. We excluded children with Tuberous Sclerosis Complex, Trisomy 21, or unknown etiology with normal development because of known differential treatment responses. We compared the two cohorts ...

Abstract

IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multi-systemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe a novel IRF2BPL phenotype consistent with progressive myoclonic epilepsy (PME) in three novel subjects and review the features of the 31 subjects with IRF2BPL-related disorders previously reported.

Our three probands, aged 28-40 years, harbored de novo nonsense variants in IRF2BPL [c.370C>T, p.(Gln124*) and c.364C>T; p.(Gln122*) respectively]. From late childhood/adolescence, they presented with severe myoclonus epilepsy, stimulus-sensitive myoclonus, ...