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Related Concept Videos

Epilepsy and Seizures: Overview01:24

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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Updated: Jul 15, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Genetic testing among patients evaluated for epilepsy surgery.

Anni Saarela1,2, Veera-Julia Kuronen1, Oskari Timonen1

  • 1Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.

Epileptic Disorders : International Epilepsy Journal with Videotape
|July 13, 2026
PubMed
Summary

Genetic testing for epilepsy is becoming more common in presurgical evaluations, increasing the identification of genetic causes. While this aids treatment decisions, its impact on surgical outcomes for epilepsy patients requires further investigation.

Keywords:
VNSgenevariantwhole exome sequencing

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Stereo-Electro-Encephalo-Graphy (SEEG) With Robotic Assistance in the Presurgical Evaluation of Medical Refractory Epilepsy: A Technical Note

Published on: June 13, 2016

Area of Science:

  • Neurology
  • Genetics
  • Epilepsy Research

Background:

  • Genetic testing is increasingly recommended for epilepsy presurgical evaluations.
  • Identifying genetic causes of epilepsy is crucial for understanding disease etiology.

Purpose of the Study:

  • To characterize genetic tests used in epilepsy surgery evaluations.
  • To assess the influence of genetic findings on treatment and outcomes over a decade.

Main Methods:

  • Prospective database of pediatric and adult epilepsy patients at a tertiary center.
  • Analysis of genetic testing data and clinical information from 2015-2024.

Main Results:

  • 26.1% of patients underwent genetic testing, increasing from 6.1% in 2016 to 40.5% in 2024.
  • Genetic etiology was identified in 8.0% of patients, with detection rates rising significantly.
  • Only 11.1% of genetically diagnosed patients had resective surgery, with limited seizure freedom.

Conclusions:

  • Germline genetic testing is increasingly integrated into epilepsy presurgical evaluations.
  • Genetic findings enhance clinical decision-making, treatment planning, and prognostic assessment.
  • Genetic insights can potentially reduce unnecessary investigations.