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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...

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Related Experiment Video

Updated: Jan 7, 2026

Manipulation of Epileptiform Electrocorticograms ECoGs and Sleep in Rats and Mice by Acupuncture

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Published on: December 22, 2016

A two-sample Mendelian randomization study and mediation analysis exploring the link between cathepsins and epilepsy.

Huaiyu Sun¹, Di Ma¹, Wuqiong Zhang¹

¹Neurology Department, First Hospital of Jilin University, Changchun, Jilin, China.

|January 1, 2026

Summary

Elevated cathepsin E levels are causally linked to an increased risk of generalized epilepsy. This finding suggests cathepsin E as a potential therapeutic target for epilepsy treatment.

Keywords:

Mendelian randomization bidirectional causal effects cathepsins epilepsy mediation analysis

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Microdialysis of Excitatory Amino Acids During EEG Recordings in Freely Moving Rats

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Published on: November 8, 2018

Area of Science:

Neuroscience
Genetics
Biochemistry

Background:

Epilepsy is a prevalent neurological disorder with variable treatment responses.
Cathepsins, a family of proteases, have been implicated in various biological processes, but their role in epilepsy remains unclear.

Purpose of the Study:

To investigate the potential causal relationship between cathepsins and epilepsy.
To explore the molecular mechanisms underlying this association using Mendelian randomization and mediation analysis.

Main Methods:

Utilized bidirectional two-sample Mendelian randomization (MR) analysis.
Employed mediation analysis to identify intermediate factors.
Leveraged summary statistics from large-scale genetic consortia (FinnGen, ILAE, IEU OpenGWAS).

Main Results:

MR analysis indicated a significant causal effect of elevated cathepsin E on the risk of generalized epilepsy (OR: 1.304, P=0.0004).
Mediation analysis identified ADAMTS4 (a disintegrin and metalloproteinase with thrombospondin motifs 4) as a significant mediator (23.5% mediation effect).

Conclusions:

Provides evidence for a causal link between cathepsin E and generalized epilepsy.
Suggests cathepsin E as a potential risk factor for epilepsy development.
Highlights ADAMTS4 as a key mediator, offering insights into epilepsy pathogenesis and potential therapeutic strategies.