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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

230
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...
230
Seizures: Classification01:13

Seizures: Classification

451
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:
451

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Related Experiment Video

Updated: Jul 28, 2025

Pupillary Response as Assessment of Effective Seizure Induction by Electroconvulsive Therapy
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Epilepsy panel testing criteria: A clinical assessment.

Andrew C Fazenbaker1,2, Christine D Munro1, Jenna C Carlson1,3

  • 1Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.

Journal of Genetic Counseling
|May 29, 2023
PubMed
Summary

Epilepsy panel testing criteria were evaluated for accuracy. Incorporating family history significantly improved sensitivity, aiding in appropriate genetic testing for epilepsy patients and informing insurance coverage decisions.

Keywords:
chart reviewgenetic testingpolicypredictivepublic health

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Area of Science:

  • Neurology
  • Genetics
  • Medical Diagnostics

Background:

  • Epilepsy is a common neurological disorder with a frequent genetic component.
  • Existing guidelines for ordering and covering epilepsy panels (EPs) are limited.
  • The Genetic Testing Stewardship Program (GTSP) at UPMC Children's Hospital of Pittsburgh (CHP) developed internal criteria for EP testing since 2017.

Purpose of the Study:

  • To assess the sensitivity and positive predictive values (PPV) of internally developed epilepsy panel (EP) testing criteria.
  • To provide data supporting evidence-based guidelines for EP ordering and insurance coverage.

Main Methods:

  • Retrospective chart review of electronic medical records (EMR) for 1242 neurology patients diagnosed with epilepsy between 2016-2018.
  • Analysis of 109 patients who underwent EP testing, categorizing criteria into groupings (C1-C4).
  • Evaluation of sensitivity and PPV for each category grouping, individually and in combination.

Main Results:

  • Highest sensitivity and PPV varied by category: C1 (64.7%, 60%), C2 (88%, 30.3%), C3 (94.1%, 27.1%), C4 (94.1%, 25.4%).
  • Family history was identified as a crucial factor for increasing testing sensitivity.
  • Applying C4 PPV to the untested cohort predicted 121 additional patients with positive EPs.

Conclusions:

  • The study supports the predictive capability of EP testing criteria and suggests incorporating family history.
  • Findings can inform the development of evidence-driven insurance policies for genetic testing in epilepsy.
  • Improved guidelines can facilitate appropriate EP ordering and coverage, potentially enhancing patient access to diagnostic testing.