Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objectives

To refine the spectrum of SCN1A-epileptic disorders other than Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+) and optimize anti-seizure management by correlating phenotype-genotype relationship and functional consequences of SCN1A variants in a cohort of patients.

Methods

Sixteen probands carrying SCN1A pathogenic variants were ascertained via a national collaborative network. We also performed a literature review including individuals with SCN1A variants causing non-DS and non-GEFS+ phenotypes and compared the features of the two cohorts. Whole-cell patch-clamp experiments were performed ...

Abstract

Objective

To describe the temporal trends in the cost and use of adrenocorticotropic hormone (ACTH), oral prednisolone, and vigabatrin, the first-line treatments for infantile epileptic spasms syndrome (IESS).

Methods

Retrospective observational study using the MarketScan Commercial database from 2006 to 2020. We identified patients with IESS diagnosed between birth and 18 months of age who received at least one of the first-line treatments within 60 days of diagnosis. Costs were adjusted for inflation using the Gross Domestic Product Implicit Price Deflator.

Results

1,131 patients received at ...

Abstract

Objective

Identifying factors associated with surgical decision making is important to understand reasons for underutilization of epilepsy surgery. Neurologists’ recommendations for surgery and patients’ acceptance of these recommendations depend on clinical epilepsy variables, e.g., lateralization and localization of seizure onset zones. Moreover, previous research shows associations with demographic factors, e.g., age and sex. Here, we investigate the relevance of patients’ psycho-social profile for surgical decision making.

Methods

We prospectively studied 296 patients from two large German epilepsy-centers. Multiple logistic regression analyses were used ...

Abstract

Objective

Traumatic brain injury (TBI) and stroke are well-known causes of acquired epilepsy. TBI is also a risk factor for stroke, and injury-induced stroke may indirectly convey a proportion of the epilepsy risk following TBI. We studied the extent to which the effect of TBI on epilepsy operated through intermediary stroke.

Methods

We analyzed a nationwide, matched, register-based cohort of adults ≥$$ ge $$ 40 years of age whose first TBI at Danish hospitals was recorded between 2004 and 2016. A matched reference population ...

Abstract

Objective

We aim to quantify whole-brain tissue-property changes in patients with magnetic resonance imaging (MRI)–negative pharmacoresistant focal epilepsy by three-dimensional (3D) magnetic resonance fingerprinting (MRF).

Methods

We included 30 patients with pharmacoresistant focal epilepsy and negative MRI by official radiology report, as well as 40 age- and gender-matched healthy controls (HCs). MRF scans were obtained with 1 mm³ isotropic resolution. Quantitative T1 and T2 relaxometry maps were reconstructed from MRF and registered to the Montreal Neurological Institute (MNI) space. A two-sample t test was ...

Abstract

Objective

The pharmacokinetics of oral diazepam are affected by food, but food-effect studies have not been conducted for diazepam nasal spray because it is believed that most absorption occurs via the nasal mucosa. However, gastrointestinal side effects reported with nasal diazepam suggest that at least a portion of the drug may be absorbed enterally and thus subject to food effects. The objective of this study was to evaluate the possible effects of food on the pharmacokinetics of diazepam nasal spray in ...

Abstract

Objective

Despite increased awareness of the serious epilepsy complication sudden unexpected death in epilepsy (SUDEP), a substantial population of people with epilepsy (PWE) remain poorly informed. Physicians indicate concern that SUDEP information may adversely affect patients’ health and quality of life. We examined SUDEP awareness and the immediate and long-term effects of providing SUDEP information to PWE.

Methods

Baseline knowledge and behaviors among PWE and behavioral adjustments following the provision of SUDEP information were evaluated in a prospective, multicenter survey using the following ...

Abstract

Objective

Pediatric epilepsy surgery promises seizure freedom or even cure of epilepsy. We evaluated the long-term (≥10 years) adult clinical outcome including surgery-related adverse events and complications, which are generally underreported.

Methods

A monocentric, single-arm, questionnaire study in now adult patients who underwent epilepsy surgery during childhood. A novel ad hoc parental/patient questionnaire, which addressed diverse outcome domains was applied.

Results

From a total of 353 eligible patients, 203 could be contacted (3 patients died of causes unknown) and 101 (50%) returned appropriately filled-in surveys. No ...

Abstract

Objective

Favorable seizure outcome is reported following resection of bottom-of-sulcus dysplasia (BOSD). We assessed the distribution of epileptogenicity and dysplasia in and around BOSD to better understand this clinical outcome and the optimal surgical approach.

Methods

We studied 27 children and adolescents with MRI-positive BOSD who underwent epilepsy surgery, 85% became seizure-free post resection (median 5.0 years follow-up). All patients had resection of the dysplastic sulcus and 11 had additional resection of the gyral crown (GC) or adjacent gyri (AG). Markers of epileptogenicity were ...