Seizure outcomes after resection of temporal encephalocele in patients with drug‐resistant epilepsy: A systematic review and meta‐analysis

Abstract

Objective

Temporal encephaloceles (TEs) are seen in patients with drug-resistant epilepsy (DRE); yet they are also common incidental findings. Variability in institutional pre-surgical epilepsy practices and interpretation of epileptogenic network localization contributes to bias in existing epilepsy cohorts with TE, and therefore the relevance of TE in DRE remains controversial. We sought to estimate effect sizes and sample sizes necessary to demonstrate clinically relevant improvements in seizure outcome with different surgical approaches.

Methods

We searched Medline, Embase, and Cochrane to identify studies reporting ...

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Distinct peripheral pro‐inflammatory profile associated with tuberous sclerosis complex and epilepsy

Abstract

Objective

Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations. Reliable biomarkers are lacking to monitor and predict evolution and response to treatment for epilepsy in pwTSC. Inflammation has been implicated in epileptogenesis in non–TSC-related epilepsy. ...

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Tremor as an intrinsic feature of juvenile myoclonic epilepsy

Abstract

We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.8 years) and 30 age of onset- and gender-matched subjects with JME (21 females, mean age = 26.8 ± 11.2 years) prospectively underwent clinical and neurophysiologic assessment, including tremor assessment and somatosensory evoked potentials (SEPs). All JME plus tremor subjects experienced postural and action tremor affecting bilateral upper limbs. ...

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Lateralizing value of interictal epileptiform discharges and other parameters in hypothalamic hamartoma

Abstract

Objective

Hypothalamic hamartomas (HHs) are associated with pharmacoresistant epilepsy. Stereotactic radiofrequency thermocoagulation (SRT) shows promise as a disconnecting intervention. Although magnetic resonance imaging (MRI) is typically used to determine the attachment and intervention side, it presents challenges in cases of bilaterally attached HH, where the epileptogenic side is unclear. The lateralizing potential of electroclinical parameters in such cases remains uncertain. This retrospective study evaluates the lateralization value of specific parameters, particularly in patients with unilateral HH, to improve future diagnostics and ...

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Cenobamate as add‐on treatment for SCN8A developmental and epileptic encephalopathy

Abstract

Objectives

Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom. In this retrospective study, the effect of cenobamate was assessed in patients with SCN8A-DEE.

Methods

Across multiple centers and through collaborations ...

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Plasma metabolome reveals altered oxidative stress, inflammation, and amino acid metabolism in dogs with idiopathic epilepsy

Plasma metabolome reveals altered oxidative stress, inflammation, and amino acid metabolism in dogs with idiopathic epilepsy

An overview of the study protocol including 88 client-owned dogs: 39 healthy controls (HC), 22 dogs with mild phenotype (MP) and 27 drug-resistant (DR) idiopathic epilepsy. UHPLC-HRMS, ultra-high-performance liquid chromatography coupled to hybrid quadrupole-Orbitrap high resolution mass spectrometry

Abstract

Objective

Idiopathic epilepsy (IE) is the most common chronic neurological disease in dogs and an established natural animal model for human epilepsy types with genetic and unknown ...

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Population pharmacokinetics of cannabidiol and the impact of food and formulation on systemic exposure in children with drug‐resistant developmental and epileptic encephalopathies

Abstract

Objective

Identifying factors influencing cannabidiol (CBD) exposure can optimize treatment efficacy and safety. We aimed to describe the population pharmacokinetics of CBD in children with drug-resistant developmental and epileptic encephalopathies (DEEs) and assess the influence of environmental, pharmacological, and clinical characteristics on CBD systemic exposure.

Methods

Data from two pharmacokinetic studies of patients aged 2–18 years with DEEs were included (N = 48 patients). Serial blood samples were collected during maintenance treatment, before and after the morning dose, and up to 6 h after a dose of ...

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Incidence of childhood and youth epilepsy: A population‐based prospective cohort study utilizing current International League Against Epilepsy classifications for seizures, syndromes, and etiologies

Abstract

Objective

This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.

Methods

The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway’s universal health care system and mandatory reporting to the Norwegian Patient Registry. A standardized protocol guided medical record review, leading to validation of diagnoses and classification of ...

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Efficacy of neuromodulation of the pulvinar nucleus for drug‐resistant epilepsy

Abstract

Objective

The pulvinar nucleus of the thalamus has extensive cortical connections with the temporal, parietal, and occipital lobes. Deep brain stimulation (DBS) targeting the pulvinar nucleus, therefore, carries the potential for therapeutic benefit in patients with drug-resistant posterior quadrant epilepsy (PQE) and neocortical temporal lobe epilepsy (TLE). Here, we present a single-center experience of patients managed via bilateral DBS of the pulvinar nucleus.

Methods

A single-institution retrospective review of five patients who underwent bilateral pulvinar DBS for drug-resistant TLE or PQE was performed. ...

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Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation

Abstract

Objective

This study was undertaken to test the following hypotheses in the Atp1a3
Mashl/+
mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na+/K+–adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected death in epilepsy (SUDEP) occurs during seizures and is due to terminal apneas in some and due to lethal cardiac arrhythmias in others; and Atp1a3
Mashl/+
mice have central cardiorespiratory dysregulation and abnormal respiratory drive.

Methods

Comparison was made of littermate wild-type and Atp1a3
Mashl/+
...

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