Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Withdrawal of anti-seizure medication (ASM) is challenging, especially in patients with recurrent seizures. Only limited evidence exists regarding the success rate and recurrence risk factors after withdrawal of ASM for a second time in patients with pediatric-onset epilepsy. In this observational study, we evaluated 104 patients with recurrent pediatric-onset epilepsy who had ASM withdrawn for a second time. The success rate was 41.3% after the second withdrawal of ASM. The absence of a self-limiting epilepsy syndrome, shorter seizure-free intervals before ...

Abstract

Familial Adult Myoclonus Epilepsy (FAME) is a genetic epilepsy syndrome that for many years, withstood revealing its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of non-coding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A and RAPGEF2). FAME occurs worldwide, however repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic in nature, ...

Abstract

Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by the association of myoclonic tremor and epilepsy mainly with onset in adulthood. The clinical course is non-progressive or slowly progressive, as epilepsy is commonly controlled with appropriate antiseizure medication and individuals have a normal life expectancy. However, the myoclonus severity increases with age and leads to some degree of disability in the elderly. Because the non-coding repeat expansions responsible for FAME are not detected by routine genetic tests ...

Abstract

Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM study group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher ...

Abstract

Objective

Super-refractory status epilepticus (SRSE) is an enduring or reoccurring SE after 24 hours or more of general anesthesia. This study aimed to evaluate the efficacy and safety of phenobarbital (PB) for the treatment of SRSE.

Methods

This retrospective, multicenter study included neuro-intensive care unit (NICU) patients with SRSE treated with PB between September 2015 and September 2020 from 6 participating centers of the Initiative of German Neuro-intensive Trial Engagement (IGNITE) to evaluate the efficacy and safety of PB-treatment for SRSE. The primary ...

Abstract

Objective

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by a defect of γ-aminobutyrate (GABA) catabolism. Despite the resultant hyper-GABAergic environment facilitated by the metabolic defect, individuals with this disorder have a paradoxically high prevalence of epilepsy. We aimed to study the characteristics of epilepsy in SSADHD and its concordance with GABA-related metabolites and neurophysiologic markers of cortical excitation.

Methods

Subjects in an international natural history study of SSADHD underwent clinical assessments, electroencephalography, transcranial magnetic stimulation (TMS), magnetic resonance ...

Abstract

New onset refractory status epilepticus (NORSE) is a rare and devastating condition occurring in a previously healthy patient. It is called febrile infection-related epilepsy syndrome (FIRES) when preceded by a febrile infection. It often leads to intensive care treatment, including antiseizure drugs in combination with anesthetic agents, and sometimes ketogenic diet. The mortality rate is high, and severe epileptic and neuropsychiatric sequelae are usually observed. Based on the possible role of neuroinflammation, intravenous immunoglobulin, corticosteroids, and immunomodulatory treatment (anti-IL1, IL6) ...

Abstract

The Critical Success Index (CSI) and Gilbert Skill score (GS) are verification measures that are commonly used to check the accuracy of weather forecasting. In this article, we propose that they can also be used to simplify the joint interpretation of positive predictive value (PPV) and sensitivity estimates across diagnostic accuracy studies of epilepsy data. This is because CSI and GS each provide a single measure that takes the weather forecasting equivalent of PPV and sensitivity into account. We have ...

Abstract

Objective

Previous studies using advanced MRI techniques have documented abnormal transmantle bands connecting ectopic nodules to overlying cortex in patients with periventricular nodular heterotopia (PNH). We describe a similar finding using conventional MRI techniques.

Methods

Patients were identified by means of a full-text search of radiological reports. All scanning was performed using conventional sequences at 3T. Scans were reviewed by three neuroradiologists, and we characterized imaging features based on type of PNH and cortical irregularities associated with the transmantle band.

Results

A total 57 PNH ...

Abstract

The etiology of New-Onset Refractory Status Epilepticus (NORSE), including its subtype with prior fever known as FIRES (Febrile Infection-Related Epilepsy Syndrome), remains uncertain. Several arguments suggest NORSE is a disorder of immunity, likely post-infectious. Consequently, seasonal occurrence might be anticipated. Here, we investigated if seasonality is a notable factor regarding NORSE presentation.

We combined four different datasets with a total of 342 cases, all from the northern hemisphere, and 62% adults.

The incidence of NORSE cases differed between seasons (p=0.0068) and was ...