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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

274
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...
274
Seizures: Classification01:13

Seizures: Classification

582
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:
582

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Related Experiment Video

Updated: Sep 8, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
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Genomics in the presurgical epilepsy evaluation.

Patrick B Moloney1, Patricia Dugan2, Peter Widdess-Walsh3

  • 1FutureNeuro, the Science Foundation Ireland Research Centre for Chronic and Rare Neurological Diseases, Royal College of Surgeons in Ireland, Dublin, Ireland; Blackrock Clinic, Dublin, Ireland; Department of Neurology, Beaumont Hospital, Dublin, Ireland; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.

Epilepsy Research
|June 12, 2022
PubMed
Summary

Genetic testing can guide epilepsy surgery decisions for drug-resistant focal epilepsy. Integrating genomic data into presurgical evaluations personalizes treatment and improves outcomes for epilepsy surgery candidates.

Keywords:
Epilepsy surgeryGenetic testingMonogenic epilepsyNext-generation sequencingPresurgical evaluation

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Area of Science:

  • Neuroscience and Genetics
  • Epileptology
  • Surgical Neurology

Background:

  • Epilepsy surgery is a key consideration for drug-resistant focal epilepsy.
  • Current presurgical evaluations focus on identifying the epileptogenic zone and its relation to critical brain areas.
  • Genetic testing is underutilized despite known monogenic causes of epilepsy, including focal types.

Purpose of the Study:

  • To review the role of genomic data in epilepsy surgery candidacy and strategy.
  • To advocate for the inclusion of genetic testing in presurgical evaluations for epilepsy surgery.
  • To highlight how genomic information can personalize epilepsy treatment approaches.

Main Methods:

  • Review of current literature on genomic data in focal epilepsy.
  • Analysis of how genetic variants influence surgical outcomes.
  • Discussion of the implications of somatic mosaicism in epilepsy pathogenesis.

Main Results:

  • Focal epilepsies linked to mTOR pathway genes may be suitable for surgery if other data align.
  • Poorer surgical outcomes are observed in patients with pathogenic variants in ion channel genes (e.g., SCN1A).
  • Genomic data should complement, not replace, other diagnostic methods for contraindicating surgery.

Conclusions:

  • Genomic data should be integrated into presurgical evaluations and multidisciplinary discussions.
  • Genetic testing is recommended for focal non-lesional epilepsy, epilepsy with intellectual disability, and specific cortical malformations.
  • Integrating genomics facilitates patient selection for resective surgery and advances personalized medicine in epilepsy care.