Epilepsia. Official Journal of the International League Against Epilepsy

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, ...

Abstract

Objective

This study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder.

Methods

We analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease. Haplotype analysis was performed in three reportedly unrelated families.

Results

Visual impairment was the initial symptom, with onset at 5–9 years, similar to classic CLN3 disease. Mean time from onset of visual impairment to seizures was 12 years (range = 6–41 years). Various seizure types were reported, most commonly generalized tonic–clonic ...

Abstract

Objective

Electronic medical records allow for retrospective clinical research with large patient cohorts. However, epilepsy outcomes are often contained in free text notes that are difficult to mine. We recently developed and validated novel natural language processing (NLP) algorithms to automatically extract key epilepsy outcome measures from clinic notes. In this study, we assessed the feasibility of extracting these measures to study the natural history of epilepsy at our center.

Methods

We applied our previously validated NLP algorithms to extract seizure freedom, seizure ...