Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Acquiring drug sensitivity profiles is challenging in rare epilepsies. Anecdotal evidence suggests that anti-seizure medications that block sodium channels as their primary mechanism of action exacerbate seizures in HCN1 developmental and epileptic encephalopathies (DEE), while 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 behavioural phenotypes observed in patients. We used this mouse model to study drug efficacy ...

Abstract

Objective

To determine whether an ictal electroencephalographic (EEG) recording as part of presurgical evaluation of children with a demarcated single unilateral magnetic resonance imaging (MRI) lesion is indispensable for surgical decision-making, we investigated the relationship of interictal/ictal EEG and seizure semiology with seizure-free outcome.

Methods

Data were obtained retrospectively from consecutive patients (≤18 years old) undergoing epilepsy surgery with a single unilateral MRI lesion at our institution over a 6-year period. Video-telemetry EEG (VT-EEG) was classified as concordant or nonconcordant/noninformative in relation to the ...

Abstract

Objective

Loss-of-function variants in SCN1A cause Dravet Syndrome, the most common genetic developmental and epileptic encephalopathy (DEE). However, emerging evidence suggests separate entities of SCN1A-related disorders due to gain-of-function variants. Here, we aim to refine the clinical, genetic, and functional electrophysiological features of a recurrent p.R1636Q gain-of-function variant, identified in four individuals at a single center.

Methods

Individuals carrying the recurrent SCN1A p.R1636Q variant were identified through diagnostic testing. Whole-cell voltage-clamp electrophysiological recording in HEK-293T cells was performed to compare the properties of ...

Abstract

Abstract

Objective

The performance of prognostic scores of status epilepticus (SE) has been reported in very heterogeneous cohorts. We aimed to provide a summary of the available evidence on their respective performance.

Methods

PubMed and EMBASE were searched for relevant articles. Studies were reviewed for eligibility for meta-analysis of the area under the receiver operating characteristic curve (AUC) and for meta-analysis of sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) in predicting in-hospital mortality with scores in which at least two ...

Abstract

Objective

Alprazolam administered via the Staccato® breath-actuated device is delivered into deep lung for rapid systemic exposure and is a potential therapy for rapid epileptic seizure termination (REST). We conducted an inpatient study (ENGAGE-E-001 [NCT03478982]) in patients with stereotypic seizure episodes with prolonged or repetitive seizures to determine whether Staccato® alprazolam rapidly terminates seizures in a small observed population after administration under direct supervision.

Methods

Adult patients with established diagnosis of focal and/or generalized epilepsy with a documented history of seizure episodes with ...

Abstract

Objective

Anterior temporal lobectomy (ATL) for medication-resistant localized epilepsy results in ablation or reduction of seizures for most patients. However, some individuals who attain an initial extended period of post-surgical seizure freedom will experience a later seizure recurrence. In this study we examined the prevalence and some risk factors for late recurrence in an ATL cohort with extensive regular follow-up.

Methods

Included were 449 patients who underwent ATL at Austin Health, Australia, from 1978 to 2008. Post-surgical follow-up was undertaken 2-3 yearly. Seizure ...

Abstract

Patients with drug-resistant epilepsy have an increased mortality rate, with the majority of deaths being epilepsy related and 40% due to sudden unexpected death in epilepsy (SUDEP). The impact of epilepsy surgery on mortality has been investigated since the 1970s, with increased interest in this field during the past 15 years. We systematically reviewed studies investigating mortality rate in patients undergoing epilepsy surgery or neuromodulation therapies. The quality of available evidence proved heterogenous and often limited by significant methodological issues. Perioperative ...

Abstract

Older adults represent a highly heterogeneous population, with multiple diverse subgroups. Therefore, an individualized approach to treatment is essential to meet the needs of each unique subgroup. Most comparative studies focusing on treatment of epilepsy in older adults have found that levetiracetam has the best chance of long-term seizure freedom. However, there is a lack of studies investigating other newer generation antiseizure medications (ASMs). Although a number of randomized clinical trials have been performed on older adults with epilepsy, the ...

Abstract

Objective

Lamotrigine is a commonly prescribed anti-epileptic drug. FDA-funded clinical studies demonstrated bioequivalence (BE) for generic lamotrigine immediate-release (IR) products in epilepsy patients with generic substitution. To address the potential concerns about risk of generic-brand substitution of lamotrigine extended-release (ER) products, considering the complexity of controlled release systems and pharmacokinetic variations associated with possible within-subject variability (WSV), this prospective study assessed i) BE of generic and brand lamotrigine ER products in a fully replicated BE study design in healthy subjects and ...