Epilepsia. Official Journal of the International League Against Epilepsy

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 ...

Abstract

Seizures are a common and challenging symptom in brain tumors, affecting approximately 60% of patients. Tumor-related epilepsy (TRE) in glioma patients requires personalized and dynamic management in a multidisciplinary environment, especially for its intricate pathophysiology and unpredictable disease evolution. This investigation provides an updated overview about the pathophysiological mechanisms and treatment options of TRE associated with gliomas, based on expert contributions belonging to different areas. By combining the most recent discoveries and expert opinions, this study seeks to provide useful ...

Abstract

Objectives

Health disparities impact access to epilepsy care in the United States, but how these factors contribute to recurrent emergency department (ED) visits is unclear. We hypothesized that people who (1) were uninsured or had public health insurance, (2) belonged to minoritized racial/ethnic groups, or (3) resided in low-income zip codes were more likely to have frequent ED visits for seizure or epilepsy.

Methods

This was a retrospective cohort study of adult patients presenting to the ED in four U.S. states (Florida, Maryland, ...

Abstract

Objective

Photosensitive epilepsy (PSE) is a reflex epilepsy, where abnormal electroencephalographic (EEG) responses are induced by photic stimulation. Photosensitivity is classified into four types based on the propagation of the brain’s response to visual stimuli. Here, we aimed to describe the underlying dynamical mechanisms of PSE and different photosensitivity types.

Methods

This retrospective study included healthy controls (HC), PSE patients, and non-PSE patients with epilepsy (PWE). All participants were stimulated with flickering white light (1–60 Hz) under 10–20 EEG monitoring.

Results

We observed significantly higher occipital ...

Abstract

Febrile infection-related epilepsy syndrome (FIRES) is a rare presentation of refractory status epilepticus following a febrile illness with resulting refractory epilepsy. Evidence supports the presence of immune dysregulation in patients with FIRES, but a monogenic basis for FIRES has not been identified in most cases. We present a case of a previously healthy 16-year-old male with FIRES who was found to have a de novo predicted damaging missense variant in CSF1R on clinical whole genome sequencing, a gene encoding a ...

Abstract

Objective

Drug-resistant epilepsy (DRE) affects >25 million people worldwide and is often associated with neuroinflammation. Increasing evidence links deficiency or malfunctioning of the enzyme phosphoglycerate dehydrogenase (PHGDH), which converts 3-phosphoglycerate to generate serine and the neurotransmitter glycine, with (drug-resistant) epilepsy. Moreover, PHGDH, which is primarily expressed in astrocytes within the brain, has been identified as a critical enzyme in driving macrophage polarization toward an anti-inflammatory state. Hence, PHGDH activators may be beneficial for treating DRE by exhibiting both antiseizure and anti-inflammatory ...