Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

NRXN1 microdeletions are associated with an increased genetic risk for various neuropsychiatric disorders, with diverse breakpoints complicating research, diagnosis, and treatment. This study aims to investigate the deletion rate and penetrance of NRXN1 microdeletions across different clinical phenotypes through meta-analysis while exploring their relationship with epilepsy and summarizing the characteristics of NRXN1 biallelic variations.

Methods

For meta-analysis, a systematic review of published studies was conducted to calculate NRXN1 microdeletion rates and penetrance across different disorders, with comparisons to control groups. For systematic ...

Abstract

Objective

This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response.

Methods

This study was conducted across 27 epilepsy centers and included patients with monogenic epileptic disorders (pathogenic or likely pathogenic variants) who were treated with highly purified CBD for at least 3 months.

Results

A total of 266 patients (135 ...

Abstract

Objective

Seizure detection in epilepsy monitoring units (EMUs) is essential for the clinical assessment of drug-resistant epilepsy. Automated video analysis using machine learning provides a promising aid for seizure detection, with resultant reduction in the resources required for diagnostic monitoring. We employ a three-dimensional (3D) convolutional neural network with fully fine-tuned backbone layers to identify seizures from EMU videos.

Methods

A two-stream inflated 3D-ConvNet architecture (I3D) classified video clips as a seizure or not a seizure. A pretrained action classifier was fine-tuned on ...

Abstract

Objective

Sturge–Weber syndrome (SWS) is a neurocutaneous disorder caused by a somatic mosaic mutation in the GNAQ gene. Epilepsy is seen in 75%–80% of children with SWS, and they are at high risk of early onset seizures, status epilepticus, and drug-resistant epilepsy. Epilepsy surgery is an effective treatment, but timing and candidacy for epilepsy surgery remain controversial in this patient population. We examined the indications, trends, and outcomes of surgically treated patients with SWS at a large-volume tertiary pediatric hospital over ...

Abstract

We compared the efficacy of lacosamide to other frequently used second-line anti-seizure medications (ASMs) for adult status epilepticus (SE) by conducting a retrospective analysis of an institutional SE registry between January 2013 and December 2022. Clinical outcomes assessed at discharge were categorized as return to baseline, new disability, or death; we also considered SE termination after the second-line ASM and the need for mechanical ventilation. Potential confounders included the Status Epilepticus Severity Score (STESS), sex, adequacy of initial SE treatment, ...

Abstract

Objective

Dravet syndrome (DS) is a developmental and epileptic encephalopathy with early life intractable seizures and lifelong comorbidities. There is growing evidence linking energy metabolism to DS, from mitochondrial respiration deficits in skeletal muscle and fibroblasts from children with DS to responsiveness to ketogenic diets. Lymphoblast cell lines (LCLs) have revealed metabolic alterations in neurological disorders, suggesting their utility for studying systemic bioenergetics. In this pilot study, we used LCLs from patients with DS to evaluate energy metabolism.

Methods

LCLs were established from ...

Abstract

Objective

Dysfunction of the microbiota–gut–brain axis is emerging as a new pathogenic mechanism in epilepsy, potentially impacting on medication response and disease outcome. We investigated the composition of the gut microbiota in a cohort of medication-resistant (MR) and medication-sensitive (MS) pediatric patients with epilepsy.

Methods

Children with epilepsy of genetic and presumed genetic etiologies were evaluated clinically and subgrouped into MR and MS. Age-matched healthy controls (HCs) were also recruited. A food diary was used to evaluate nutritional habits, and the Rome IV ...

Abstract

Objective

Dysfunction of calcium/calmodulin (CaM)–dependent kinase II (CaMKII) has been involved in hyperexcitability-related disorders including epilepsy. However, the relationship between CaMKII and neuronal excitability remains unclear.

Methods

Neuronal excitability was detected in vivo and in vitro by electroencephalography (EEG), patch clamp and multi-electrode array (MEA), respectively. Next, we assessed the currents of voltage-gated sodium channels (VGSCs) by patch clamp, and  mRNA and protein expressions of VGSCs were determined by real-time quantitative reverse transcription-polymerase chain reaction (qRT-PCR) and western blot, respectively. Meanwhile, the association between the nuclear receptor ...

Abstract

Objective

We retrospectively investigated a cohort of patients with ring chromosome 20 syndrome (r20), aiming to provide information on the prognosis of r20 regarding seizures, cognitive function, comorbidities, and social living.

Methods

Patients diagnosed with r20 in our hospital were identified, and clinical data were extracted from medical records. We used the following seizure outcome classification: favorable seizure outcome, a condition in which seizures do not interfere with daily life, including no seizures, subclinical discharges, sleep seizures or mild focal aware seizures; poor ...

Abstract

Objective

Biallelic pathogenic MBOAT7 variants are associated with neurodevelopmental disorders, intellectual disability (ID), epilepsy, and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder and autism spectrum disorders. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this syndrome.

Methods

We describe epilepsy features, electroencephalography, magnetic resonance imaging (MRI) findings, antiseizure treatment response, and neurodevelopment of 15 patients with biallelic MBOAT7 variants.

Results

All 15 patients had ID or developmental delay (DD). Twelve suffered from epilepsy, with mean age at seizure onset of ...