Epilepsia. Official Journal of the International League Against Epilepsy

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

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

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

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 ...

Abstract

Anti-Hu-associated neurologic autoimmunity most often occurs in the context of small-cell lung cancer and typically presents with peripheral neuropathy, cerebellar ataxia and/or limbic encephalitis. Extra-limbic encephalitis causing seizures is a rare disease manifestation, with only sparse reports in the literature. We herein present a patient with seizures in anti-Hu-associated extra-limbic encephalitis, and review the literature for other cases to more fully characterise this entity. Among 27 patients we identified, the median age was 46 years (range: 2-69 years) and 18/27 (67%) were ...

Abstract

Although approximately 10%–15% of patients with idiopathic generalized epilepsy (IGE)/genetic generalized epilepsy remain drug-resistant, there is no consensus or established concept regarding the underlying mechanisms and prevalence. This review summarizes the recent data and the current hypotheses on mechanisms that may contribute to drug-resistant IGE. A literature search was conducted in PubMed and Embase for studies on mechanisms of drug resistance published since 1980. The literature shows neither consensus on the definition nor a widely accepted model to explain drug ...