CDKL5 deficiency in forebrain glutamatergic neurons results in recurrent spontaneous seizures

Abstract

Objective

Mutations of the cyclin‐dependent kinase‐like 5 (CDKL5) gene cause severe neurodevelopmental disorders characterized by intractable epilepsy, intellectual disability, and autism. Multiple mouse models generated for mechanistic studies have exhibited phenotypes similar to some human pathological features, but none of the models has developed one of the major symptoms affecting CDKL5 deficiency disorder (CDD) patients: intractable recurrent seizures. As disrupted neuronal excitation/inhibition balance is closely associated with the activity of glutamatergic and γ‐aminobutyric acidergic (GABAergic) neurons, our aim was to study ...

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Autopsy‐reported cause of death in a population‐based cohort of sudden unexpected death in epilepsy

Abstract

Objective

Sudden unexpected death in epilepsy (SUDEP) is a diagnosis of exclusion; the definition includes individuals with epilepsy who die suddenly without an identifiable toxicological or anatomical cause of death. Limited data suggest underidentification of SUDEP as the cause of death on death certificates. Here, we evaluate the autopsy‐reported cause of death in a population‐based cohort of SUDEP cases.

Methods

Case summaries of forensic autopsies conducted in Ontario, Canada between January 2014 and June 2016 were retrospectively screened using a language processing script ...

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Molecular regulation of brain metabolism underlying circadian epilepsy

Abstract

Extensive study has demonstrated that epilepsy occurs with greater frequency at certain times in the 24‐h cycle. Although these findings implicate an overlap between the circadian rhythm and epilepsy, the molecular and cellular mechanisms underlying this circadian regulation are poorly understood. Because the 24‐h rhythm is generated by the circadian molecular system, it is not surprising that this system comprised of many circadian genes is implicated in epilepsy. We summarized evidence in the literature implicating various circadian genes such as ...

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Identifying seizure risk factors: A comparison of sleep, weather, and temporal features using a Bayesian forecast

Abstract

Objective

Most seizure forecasting algorithms have relied on features specific to electroencephalographic recordings. Environmental and physiological factors, such as weather and sleep, have long been suspected to affect brain activity and seizure occurrence but have not been fully explored as prior information for seizure forecasts in a patient‐specific analysis. The study aimed to quantify whether sleep, weather, and temporal factors (time of day, day of week, and lunar phase) can provide predictive prior probabilities that may be used to improve seizure ...

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Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system

Abstract

Objective

Common data elements (CDEs) are standardized questions and answer choices that allow aggregation, analysis, and comparison of observations from multiple sources. Clinical CDEs are foundational for learning health care systems, a data‐driven approach to health care focused on continuous improvement of outcomes. We aimed to create clinical CDEs for pediatric epilepsy.

Methods

A multiple stakeholder group (clinicians, researchers, parents, caregivers, advocates, and electronic health record [EHR] vendors) developed clinical CDEs for routine care of children with epilepsy. Initial drafts drew from clinical ...

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Automated identification and quality measurement for pediatric convulsive status epilepticus

Abstract

Objective

Treatment delays for refractory convulsive status epilepticus (RCSE) are associated with worse outcomes. In the United States, treatment for pediatric RCSE is slower than guidelines recommend. To address this gap, the American Academy of Neurology and Child Neurology Society (AAN/CNS) developed a quality measure: the percentage of RCSE patients that receive third‐line treatment within 60 minutes. We aimed to develop computable phenotypes for convulsive status epilepticus (CSE) and RCSE to automate calculation of the quality measure.

Methods

From an observational cohort of children ...

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Deciphering key regulators involved in epilepsy‐induced cardiac damage through whole transcriptome and proteome analysis in a rat model

Abstract

Objective

Sudden unexpected death in epilepsy (SUDEP) is a major outcome of cardiac dysfunction in patients with epilepsy. In continuation of our previous work, the present study was envisaged to explore the key regulators responsible for cardiac damage associated with chronic seizures using whole transcriptome and proteome analysis in a rat model of temporal lobe epilepsy.

Methods

A standard lithium‐pilocarpine protocol was used to induce recurrent seizures in rats. The isolated rat heart tissue was subjected to transcriptomic and proteomic analysis. An integrated ...

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