Epilepsia. Official Journal of the International League Against Epilepsy

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

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 ...

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

To determine whether automated, electronic alerts increased referrals for epilepsy surgery.

Methods

We conducted a prospective, randomized controlled trial of a natural language processing-based clinical decision support system embedded in the electronic health record (EHR) at 14 pediatric neurology outpatient clinic sites. Children with epilepsy and at least two prior neurology visits were screened by the system prior to their scheduled visit. Patients classified as a potential surgical candidate were randomized 2:1 for their provider to receive an alert or standard of ...

Abstract

Genetic variants in KCNQ2 are associated with a range of epilepsies, from self- limited (familial) neonatal-infantile epilepsy to developmental and epileptic encephalopathy (DEE). We retrospectively reviewed clinical data from eight patients with KCNQ2-related DEE who were treated with ezogabine. Treatment was initiated at a median age of 8 months (range 7 weeks to 2.5 years) and continued for a median of 2.6 years (range 7 months to 4.5 years). Five individuals had daily seizures at baseline and experienced at least 50% seizure reduction with ...

SUMMARY

Intracerebroventricular (ICV) administration is being increasingly explored as a means for delivering antiseizure and antiepileptic therapies to epileptic brain tissue. This route bypasses the BBB, thus enabling the delivery of therapeutics that are restricted from the brain, while reducing the risk of systemic adverse reactions. Nevertheless, projections from studies in patients with other diseases suggest that efficacy of some ICV-delivered therapeutics may be limited when the epileptogenic tissue or network circuits are localized more than a few millimeters away from ...

Abstract

Objective

Many people with epilepsy report subjective cognitive impairment (SCI), i.e., problems with memory, attention or executive functions, reducing quality of life. Nevertheless, overlap with objective cognitive impairment (OCI) is often weak. One reason may be a domain-specific mismatch between subjective reports and objective tests. We aimed to evaluate relations between SCI and OCI of corresponding domains and to assess whether these differ between persons that over- or underestimate their performance.

Methods

In this prospective, cross-sectional sample of 104 adult in-patients with epilepsy, ...