Proteomic analysis reveals plasma haptoglobin, interferon-γ, and interleukin-1β as potential biomarkers of pediatric refractory epilepsy (original) (raw)
Related papers
European Journal of Human Genetics, 2021
While genetic studies of epilepsies can be performed in thousands of individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution of complex phenotypes with age. Here, we present a novel approach, applying phenotypic similarity analysis to a total of 3251 patient-years of longitudinal electronic medical record data from a previously reported cohort of 658 individuals with genetic epilepsies. After mapping clinical data to the Human Phenotype Ontology, we determined the phenotypic similarity of individuals sharing each genetic etiology within each 3-month age interval from birth up to a maximum age of 25 years. 140 of 600 (23%) of all 27 genes and 3-month age intervals with sufficient data for calculation of phenotypic similarity were significantly higher than expect by chance. 11 of 27 genetic etiologies had significant overall phenotypic similarity trajectories. These do not simply reflect strong statistical associations with singl...
Molecular and cellular biomarkers in status epilepticus and epilepsy
Moldovan Journal of Health Sciences
Introduction. Peripheral biomarkers have numerous uses in the treatment, prognosis, and pharmacovigilance of epilepsy. Unfortunately, no peripheral biomarker has demonstrated proven efficacy, although several options are being investigated. In this article, we want to analyze the main areas in which peripheral biomarkers can present their usefulness, including participation in the processes of inflammation, dysfunction of the blood-brain barrier, changes in metabolism, hormones, and growth factors. Material and methods. Publications on diagnostic biomarkers of epilepsy were reviewed. References were identified by PubMed, MEDLINE and Scopus search until June 2022, with various combinations of the terms – „epilepsy”, „seizures”, „epileptogenesis”, „biomarkers”, „neuroimaging”, „inflammation”, „status epilepticus”, „prognosis”. A qualitative and analytical study was performed focused on primary studies published in 2020-2022. More than 85 sources were identified and 33 were selected fo...
The emerging concept of blood genomic profiling in childhood epilepsy
IEEE EMBS International Conference on Information Technology Applications in Biomedicine, 2010
The identification of transcriptional biomarkers or “signatures” in the peripheral blood is of great importance especially for neurological disorders, such as epilepsy, since brain is inaccessible and sensitive to permanent damage. The technology of gene expression analysis with DNA microarrays allows the simultaneous examination of the mRNA from the whole gemone and can give clues to the disease pathophysiology and
Use of peripheral blood transcriptome biomarkers for epilepsy prediction
Neuroscience letters, 2011
There are currently no predictive methods to identify patients who suffered an initial brain injury and are at high risk of developing chronic epilepsy. Consequently, treatments aimed at epilepsy prevention that would target the underlying epileptogenic process are neither available nor being developed. After a brain injury or any other initial precipitating event (IPE) to the development of epilepsy, pathological changes may occur in forms of inflammation, damage in the blood brain barrier, neuron loss, gliosis, axon sprouting, etc., in multiple brain areas. Recent studies provide connections between various kinds of brain pathology and alterations in the peripheral blood transcriptome. In this review we discuss the possibility of using peripheral blood transcriptome biomarkers for the detection of epileptogenesis and consequently, subjects at high risk of developing epilepsy.
Global Expression Profiling in Epileptogenesis: Does It Add to the Confusion?
Brain Pathology, 2000
Since the inception of global gene expression profiling platforms in the mid-1990s, there has been a significant increase in publications of differentially expressed genes in the process of epileptogenesis. In particular for mesial temporal lobe epilepsy, the presence of a latency period between the first manifestation of seizures to chronic epilepsy provides the opportunity for therapeutic interventions at the molecular biology level. Using global expression profiling techniques, approximately 2000 genes have been published demonstrating differential expression in mesial temporal epilepsy. The majority of these changes, however, are specific to laboratory or experimental conditions with only 53 genes demonstrating changes in more than two publications. To this end, we review the current status of gene expression profiling in epileptogenesis and suggest standard guidelines to be followed for greater accuracy and reproducibility of results.
Diagnostic Biomarkers Of Epilepsy
Current pharmaceutical biotechnology, 2018
diagnostic biomarkers of epilepsy are objectively measurable variables associated to the development of epilepsy or the propensity to generate seizures. Identification of biomarkers could be helpful for differential diagnosis and for tailored therapeutic approaches. this review focuses on diagnostic biomarkers of epilepsy, including genetic, serological, neuroimaging and electrophysiological variables. references were mainly identified through PubMed search until December 2017 and backtracking of references in pertinent studies. several promising diagnostic biomarkers of epilepsy exist, with causative value or predicting liability to develop seizures after acquired brain injuries. Short non-coding RNAs are deregulated in serum and cerebral tissue of epilepsy subjects: these molecules are promising diagnostic biomarkers, being easy to assess and reproducible. Advanced imaging techniques may allow identification of subtle epileptogenic lesions, often with prognostic value. Novel elect...
ROLE OF BIOMARKERS IN EPILEPTOGENESIS: A CONCISE REVIEW Review Article
International Journal of Pharmacy and Pharmaceutical Sciences, 2022
Epilepsy is a gathering of ongoing neurological problems described by intermittent, unconstrained, and unusual seizures. It is one of the most widely recognized neurological messes, influencing a huge number of individuals around the world. A biomarker is characterized as a dispassionately estimated normal for an ordinary or obsessive natural interaction. Recognizable proof and legitimate approval of biomarkers of epileptogenesis, the improvement of epilepsy, and ictogenesis, the affinity to create unconstrained seizures, may foresee the improvement of an epilepsy condition; recognize the presence and seriousness of tissue equipped for producing unconstrained seizures; measure movement after the condition is set up; furthermore, decide pharmacoresistant. Such biomarkers could be utilized to make creature models for more savvy screening of potential antiepileptogenic and antiseizure medications and gadgets and to lessen the expense of clinical preliminaries by enhancing the preliminary populace and going about as proxy markers to abbreviate the preliminary span. The destinations of the biomarker subgroup for the London Studio were to characterize approaches for distinguishing conceivable biomarkers for these reasons. Examination to recognize dependable biomarkers may likewise uncover basic instruments that could serve as helpful focuses for the improvement of new antiepileptogenic and antiseizure compounds.
Proteomic differences in the hippocampus and cortex of epilepsy brain tissue
Brain Communications
Epilepsy is a common neurological disorder affecting over 70 million people worldwide, with a high rate of pharmaco-resistance, diverse comorbidities including progressive cognitive and behavioural disorders, and increased mortality from direct (e.g. sudden unexpected death in epilepsy, accidents, drowning) or indirect effects of seizures and therapies. Extensive research with animal models and human studies provides limited insights into the mechanisms underlying seizures and epileptogenesis, and these have not translated into significant reductions in pharmaco-resistance, morbidities or mortality. To help define changes in molecular signalling networks associated with seizures in epilepsy with a broad range of aetiologies, we examined the proteome of brain samples from epilepsy and control cases. Label-free quantitative mass spectrometry was performed on the hippocampal cornu ammonis 1–3 region (CA1–3), frontal cortex and dentate gyrus microdissected from epilepsy and control case...
Cellular injury and neuroinflammation in children with chronic intractable epilepsy
Journal of Neuroinflammation, 2009
Objective: To elucidate the presence and potential involvement of brain inflammation and cell death in neurological morbidity and intractable seizures in childhood epilepsy, we quantified cell death, astrocyte proliferation, microglial activation and cytokine release in brain tissue from patients who underwent epilepsy surgery.