Epilepsia. Official Journal of the International League Against Epilepsy

Abstract

Objective

Establishing the prevalence of epilepsy in Uganda is crucial to inform interventions and public policy. We conducted a nationwide survey to determine epilepsy prevalence.

Methods

From January 2019 to July 2022, a door-to-door survey was conducted across all four regions of Uganda, targeting a nationally representative sample of households. Trained field teams identified and interviewed heads of households to obtain demographic information, and three household members were randomly selected for epilepsy screening. A two-part survey, adapted from a validated standardized epilepsy questionnaire ...

Abstract

Objective

Interictal high-frequency oscillations (HFOs) are a promising neurophysiological biomarker of the epileptogenic zone (EZ). However, objective criteria for distinguishing pathological from physiological HFOs remain elusive, hindering clinical application. We investigated whether the distinct mechanisms underlying pathological and physiological HFOs are encapsulated in their signal morphology in intracranial electroencephalographic (iEEG) recordings and whether this distinction could be captured by a deep generative model.

Methods

In a retrospective cohort of 185 epilepsy patients who underwent iEEG monitoring, we analyzed 686 410 HFOs across 18 265 brain ...

Abstract

Objective

In patients with intractable epilepsy, accurate diaries of seizure occurrence and timing can substantially inform management. Wearable devices that provide confirmation of seizure occurrence complement such diaries, which are frequently incomplete and/or inaccurate. Here, we combined seizure diaries and longitudinally deployed wrist-worn device recordings to evaluate whether wearable recordings contain information that can discriminate between days containing seizure-related activity and those without.

Methods

Patients with focal seizures were prospectively enrolled in a clinical trial to test the effectiveness of eslicarbazepine acetate as ...

Abstract

Disinhibition of the mechanistic target of rapamycin (mTOR) pathway has been observed in patients with loss-of-function variants in the disheveled, Egl-10, and pleckstrin domain-containing protein 5 (DEPDC5), and nitrogen permease regulator-like proteins 2 and 3 (NPRL2, and NPRL3) genes, which encode the components of GTPase activating protein Activity Toward Rags Complex 1 (GATOR1) complex. Everolimus, a synthetic mTOR inhibitor, has shown efficacy in treating seizures in patients with DEPDC5 epilepsy, but seemed to worsen seizures in the one published patient with ...

Abstract

Objective

Benzodiazepine immediate-use seizure medications (ISMs; also called rescue therapies) are used to treat seizure clusters/acute repetitive seizures in patients with epilepsy. In the United States, diazepam nasal spray is an approved ISM for patients ≥2 years of age. The primary objective was to assess diazepam nasal spray pharmacokinetics (PK) in patients 2–5 years of age; safety and tolerability were secondary objectives.

Methods

This Phase 1/2a, open-label, single-dose, PK study with a 180-day open-label safety period enrolled patients with epilepsy 2–5 years of age. Diazepam nasal ...

Abstract

Objective

Newer antiseizure medications (ASMs), such as lacosamide and brivaracetam, have promising retention in clinical trials but real-world data on their effectiveness when used as first or second treatments is missing. Because newer ASMs are often reserved for severe cases, such knowledge accumulates slowly. We utilized nationwide “big data” and aimed to evaluate real-world retention of these ASMs when used early in the disease course.

Methods

We used longitudinal national register data to identify all adults with incident ASM-treated epilepsy in Sweden from ...

Abstract

Objective

The CSMD genes, including CSMD1, CSMD2, and CSMD3, encoding synaptic transmembrane proteins, play important roles in neuronal maturation, growth of dendrites, and processes of synapses. Our recent study showed that CSMD1 was associated with developmental epileptic encephalopathy (DEE) and generalized epilepsy. The significance of CSMD2 and CSMD3 in human disease is unknown.

Methods

Trio-based whole-exome sequencing was performed in patients with focal epilepsy without acquired etiologies. The gene–disease association was validated by excess and damaging effect of variants, genotype–phenotype correlation, and studies ...

Abstract

Objective

The emergence of large language models (LLMs) and the increasing prevalence of electronic health records (EHRs) present significant opportunities for advancing health care research and practice. However, research that compares and applies LLMs to extract key epilepsy-related information from unstructured medical free text is under-explored. This study fills this gap by comparing and applying different open-source LLMs and methods to extract epilepsy information from unstructured clinic letters, thereby optimizing EHRs as a resource for the benefit of epilepsy research. We ...

Abstract

Objective

This study was undertaken to determine how voltage-gated sodium channel (VGSC) blockers modulate cortical excitability in vivo. VGSCs are critical for regulating axonal excitability, yet the effects of sodium channel-blocking medications on human cortical neurons remain poorly characterized. We aimed to address this gap using transcranial magnetic stimulation (TMS)-derived strength–duration measures as a noninvasive index of VGSC function.

Methods

Thirteen healthy adults received single doses of either carbamazepine, lacosamide, or placebo in a crossover design. TMS was used to assess changes in resting ...

Abstract

Objective

Dravet syndrome (DS) is a severe neurodevelopmental disorder caused by pathogenic variants in the SCN1A gene, which encodes the voltage-gated sodium channel Na_v1.1 α subunit. Experiments in animal models of DS—including the haploinsufficient Scn1a
^+/− mouse—have identified impaired excitability of interneurons in the hippocampus and neocortex; this is thought to underlie the treatment-resistant epilepsy that is a prominent feature of the DS phenotype. However, additional brain structures, such as the medial septum (MS), also express SCN1A. The MS is known ...