Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

Abstract

Objective

The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic variants in genes that have been previously associated with a somatic or germline epilepsy model, ascertained from resected brain tissue from patients with multidrug-resistant focal epilepsy.

Methods

Forty-two patients were recruited across three categories: (1) malformations of cortical development, (2) mesial temporal lobe epilepsy with hippocampal sclerosis, and (3) ...

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Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Abstract

Objective

YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy.

Methods

We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, ...

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Modification of brain conductivity in human focal epilepsy: A model‐based estimation from stereoelectroencephalography

Abstract

Objective

We have developed a novel method for estimating brain tissue electrical conductivity using low-intensity pulse stereoelectroencephalography (SEEG) stimulation coupled with biophysical modeling. We evaluated the hypothesis that brain conductivity is correlated with the degree of epileptogenicity in patients with drug-resistant focal epilepsy.

Methods

We used bipolar low-intensity biphasic pulse stimulation (.2 mA) followed by a postprocessing pipeline for estimating brain conductivity. This processing is based on biophysical modeling of the electrical potential induced in brain tissue between the stimulated contacts in response to ...

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Diet composition and sterilization modifies intestinal microbiome diversity and burden of Theiler’s virus infection–induced acute seizures

Abstract

Objective

Brain infection with Theiler’s murine encephalomyelitis virus (TMEV) in C57BL/6J mice can induce acquired epileptogenesis. Diet alters acute seizure incidence in TMEV-infected mice; yet it is unclear whether intestinal dysbiosis may also impact acute or chronic behavioral comorbidities. This study thus assessed the impact of diet formulation and sterilization on acute seizure presentation, gut microbiome composition, and epilepsy-related chronic behavioral comorbidities.

Methods

Baseline fecal samples were collected from male C57BL/6J mice (4- to 5-weeks-old; Jackson Labs) upon facility arrival. Mice were randomized ...

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Why did my seizures start now? Influences of lesion connectivity and genetic etiology on age at seizure onset in focal epilepsy

Abstract

Objective

Patients with focal, lesional epilepsy present with seizures at variable ages. Larger lesion size and overlap with sensorimotor or default mode network (DMN) have been associated with younger age at seizure onset in cohorts with mixed types of focal cortical dysplasia (FCD). Here, we studied determinants of age at seizure onset in patients with bottom-of-sulcus dysplasia (BOSD), a discrete type of FCD with highly localized epileptogenicity.

Methods

Eighty-four patients (77% operated) with BOSD were studied. Demographic, histopathologic, and genetic findings were recorded. ...

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Specific consistency score for rational selection of epilepsy resection surgery candidates

Abstract

Objective

Degree of indication for epilepsy surgery is determined by taking multiple factors into account. This study aimed to investigate the usefulness of the Specific Consistency Score (SCS), a proposed score for focal epilepsy to rate the indication for epilepsy focal resection.

Methods

This retrospective cohort study included patients considered for resective epilepsy surgery in Kyoto University Hospital from 2011 to 2022. Plausible epileptic focus was tentatively defined. Cardinal findings were scored based on specificity and consistency with the estimated laterality and lobe. ...

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Comprehensive phenotypes of patients with SYNGAP1‐related disorder reveals high rates of epilepsy and autism

Abstract

Objective

To delineate the comprehensive phenotypic spectrum of SYNGAP1-related disorder in a large patient cohort aggregated through a digital registry.

Methods

We obtained de-identified patient data from an online registry. Data were extracted from uploaded medical records. We reclassified all SYNGAP1 variants using American College of Medical Genetics criteria and included patients with pathogenic/likely pathogenic (P/LP) single nucleotide variants or microdeletions incorporating SYNGAP1. We analyzed neurodevelopmental phenotypes, including epilepsy, intellectual disability (ID), autism spectrum disorder (ASD), behavioral disorders, and gait dysfunction for all ...

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Association of midazolam route of administration and need for recurrent dosing among children with seizures cared for by emergency medical services

Abstract

Objective

National guidelines in the United States recommend the intramuscular and intranasal routes for midazolam for the management of seizures in the prehospital setting. We evaluated the association of route of midazolam administration with the use of additional benzodiazepine doses for children with seizures cared for by emergency medical services (EMS).

Methods

We conducted a retrospective cohort study from a US multiagency EMS dataset for the years 2018–2022, including children transported to the hospital with a clinician impression of seizures, convulsions, or status ...

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MyD88‐mediated signaling is critical for the generation of seizure responses and cognitive impairment in a model of anti‐N‐methyl‐D‐aspartate receptor encephalitis

Abstract

Objective

We previously demonstrated that interleukin-1 receptor-mediated immune activation contributes to seizure severity and memory loss in anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. In the present study, we assessed the role of the myeloid differentiation primary response gene 88 (MyD88), an adaptor protein in Toll-like receptor signaling, in the key phenotypic characteristics of anti-NMDAR encephalitis.

Methods

Monoclonal anti-NMDAR antibodies or control antibodies were infused into the lateral ventricle of MyD88 knockout mice (MyD88−/−) and control C56BL/6J mice (wild type [WT]) via osmotic minipumps for 2 weeks. ...

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Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three‐dimensional gait analysis

Abstract

Objective

Individuals with Dravet syndrome (DS) exhibit progressive gait disturbance. No quantitative studies have been conducted to evaluate the effectiveness of medication for gait disturbance. Therefore, the aim of this study was to evaluate the effectiveness of levodopa for pathological gait in people with DS using three-dimensional gait analysis (3DGA).

Methods

Nine individuals with DS, ages 6–20 years, participated in a crossover study of levodopa and were randomly assigned to the levodopa precedence or no levodopa precedence group. Levodopa/carbidopa hydrate was prescribed at a ...

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