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Epilepsy and Seizures: Overview

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...

Seizures: Classification

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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:

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Updated: Mar 5, 2026

Lipidomics and Transcriptomics in Neurological Diseases

Lipidomics and Transcriptomics in Neurological Diseases

Published on: March 18, 2022

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern.

Markus von Deimling¹, Robert Häsler², Verena Steinbach¹

¹Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel University, Kiel, Germany.

Epilepsy Research

|March 22, 2017

Summary

Researchers explored gene expression in childhood and juvenile absence epilepsy (CAE/JAE) patients. While identifying candidate genes, blood-based analysis showed significant heterogeneity, limiting the discovery of reliable disease mechanisms.

Keywords:

Absence epilepsy CAE GGE Gene expression

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Childhood and Juvenile Absence Epilepsy (CAE/JAE) comprise 30% of genetic generalized epilepsies.
The underlying genetic factors for CAE/JAE remain largely unresolved.
Identifying disease-associated transcripts is crucial for understanding disease mechanisms.

Purpose of the Study:

To identify disease-associated transcripts in patients with CAE and JAE.
To pinpoint potential underlying disease mechanisms in CAE and JAE.
To investigate gene expression profiles in newly-diagnosed absence epilepsy patients.

Main Methods:

Gene expression analysis was performed on peripheral blood mononuclear cells (PBMCs) from 30 newly-diagnosed CAE/JAE patients and 30 controls.
Genome-wide transcriptome analysis was conducted using microarrays in a discovery cohort.
Quantitative real-time PCR (qRT-PCR) was used for validation of differentially expressed genes and candidate genes in independent cohorts.

Main Results:

Genome-wide analysis identified 601 differentially regulated genes.
Validation confirmed ATP1B3, CAND1, PRPF6, and TRIM8 as potential candidates, though not statistically significant across all groups.
Previously implicated genes like GABRA1, GABRB3, GABRG2, and RCN2 showed inconsistent regulation patterns.

Conclusions:

Gene expression analysis in absence epilepsy from PBMCs reveals significant heterogeneity among patient groups.
The study identified several potentially interesting candidate genes for CAE/JAE.
Blood-based gene expression analysis presents challenges for identifying robust disease-related signatures due to experimental condition variability.