Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Evaluating patients with drug-resistant epilepsy often requires inducing seizures by tapering anti-seizure medications (ASMs) in the Epilepsy Monitoring Unit (EMU). The relationship between ASM taper strategy, seizure timing and severity remains unclear. In this study, we developed and validated a pharmacokinetic model of total ASM load and tested its association with seizure occurrence and severity in the EMU.

Methods

We studied 80 patients who underwent intracranial EEG recording for epilepsy surgery planning. We developed a first-order pharmacokinetic model of the ASMs administered ...

Abstract

Objective

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy, leading to reduced health-related quality of life (HRQOL). Prospective outcome data on HRQOL are sparse, and this study investigated long-term predictors of HRQOL in DS.

Methods

One hundred thirteen families of SCN1A-positive patients with DS, who were recruited as part of our 2010 study were contacted at 10-year follow-up, of which 68 (60%) responded. The mortality was 5.8%. Detailed clinical and demographic information was available for each patient. HRQOL was evaluated with ...

Abstract

Objective

Measuring cortico-cortical evoked potentials (CCEPs) is a promising tool for mapping epileptic networks, but it is not known how variability in brain state and stimulation technique might impact the use of CCEPs for epilepsy localization. We test the hypotheses that (1) CCEPs demonstrate systematic variability across trials and (2) CCEP amplitudes depend on the timing of stimulation with respect to endogenous, low-frequency oscillations.

Methods

We studied 11 patients who underwent CCEP mapping after stereo-electroencephalography electrode implantation for surgical evaluation of drug-resistant epilepsy. ...

Abstract

Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has emerged as a popular minimally invasive alternative to open resective surgery for drug-resistant epilepsy (DRE). We sought to perform a systematic review and individual participant data meta-analysis (IPDMA) to identify independent predictors of seizure outcome and complications following MRgLITT for DRE. Eleven databases were searched from January 1^st, 2010 to February 6^th, 2021 using the terms: “MR-guided Ablation Therapy” and “epilepsy”. Multivariable mixed-effects Cox and logistic regression identified predictors of time-to-seizure recurrence, ...

Abstract

Objective

Familial adult myoclonic epilepsy (FAME) is an under-recognized disorder characterized by cortical myoclonus, generalized tonic–clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes. FAME should be distinguished from a range of differential diagnoses.

Methods

The differential diagnoses and frequent presentations leading to misdiagnosis of FAME were investigated from the available literature and reported based on an expert opinion survey.

Results

The phenotypic features of FAME, including generalized tonic–clonic and myoclonic seizures, are also seen in other epilepsy syndromes, such as juvenile myoclonic epilepsy, with ...

Abstract

Objective

Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once a diagnosis is received. This study systematically reviewed the impact of ES results on clinical decision-making and patient care in a pediatric epilepsy cohort at a tertiary care medical center.

Methods

Pediatric patients with unexplained epilepsy were referred by their neurologist, and informed consent was obtained through ...

Abstract

The Progressive Myoclonus Epilepsies (PMEs) are a heterogeneous group of neurodegenerative disorders, typically presenting in late childhood. An etiologic diagnosis is achieved in about 80% of PME patients, and genome wide molecular studies on remaining, well selected, undiagnosed cases can further dissect the underlying genetic heterogeneity.

Through whole-exome sequencing (WES), we identified pathogenic truncating variants in the IRF2BPL gene in two unrelated patients presenting with PME. IRF2BPL belongs to the transcriptional regulators family and it is expressed in multiple human tissues, ...

Abstract

Objective:

Initiation and development of early seizures by chemical stimuli is associated with brain cell swelling resulting in edema of seizure-vulnerable brain regions. We previously reported that pretreatment with a non-convulsive dose of glutamine synthetase (GS) inhibitor methionine sulfoximine (MSO) mitigates the intensity of initial pilocarpine (Pilo)-induced seizures in juvenile rats. We hypothesized that MSO exerts its protective effect by preventing the seizure-initiating and seizure-propagating increase of cell volume. Taurine (Tau) is an osmosensitive amino acid, whose release reflects increased cell ...

Abstract

Animal models of human brain disorders permit to explore disease mechanisms and to test potential therapies. However therapeutic molecules derived from animal models often translate poorly to the clinic. While human data may be more relevant, experiments on patients are constrained and living tissue is unavailable for many disorders. Here we compare work on animal models and on human tissue for three epileptic syndromes where human tissue is excised therapeutically. (1) acquired temporal lobe epilepsies, (2) inherited epilepsies associated with ...