Related Experiment Video
Updated: Jul 9, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
Genetic Testing in Adult Patients With Epilepsy: Genetic Risk Index for Seizure Etiology for Identifying Optimal
Yi Li1, David Lee1,2, Cynthia Peng1
1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA; and.
Genetic testing for adult epilepsy is underutilized, with significant delays. A new tool, Gen-RISE, helps identify patients likely to have genetic variants, improving diagnostic efficiency.
Area of Science:
- Neurology
- Genetics
- Diagnostic Medicine
Background:
- Genetic testing is recommended for epilepsies of unknown cause, but its use in adults is not well-defined.
- Optimal application of genetic testing in adult epilepsy populations requires further investigation.
Purpose of the Study:
- Assess the diagnostic yield of genetic testing in adult epilepsy patients.
- Identify risk factors associated with positive genetic testing results.
- Develop a clinical score (Gen-RISE) to guide genetic testing selection.
Main Methods:
- A single-center cross-sectional study of 508 adult epilepsy patients (2018-2024).
- Used electronic health records and manual chart review for data collection.
- Applied multivariable logistic regression to identify predictors of pathogenic variants and developed the Gen-RISE score.
Main Results:
- 32.9% of patients had detectable pathogenic variants, with significant delays in testing.
- Intellectual disability, early seizure onset (<3 years), and abnormal EEG findings predicted genetic epilepsy.
- Exome sequencing showed the highest diagnostic yield (41.7%).
- The Gen-RISE score predicted >50% likelihood of pathogenic variants with 98.6% sensitivity in a validation cohort.
Conclusions:
- Genetic testing for epilepsy is underused in adults, despite a significant diagnostic yield.
- The developed Gen-RISE tool can enhance diagnostic efficiency by identifying optimal candidates for genetic testing.
- Consider genetic testing for adult epilepsy patients with suspected genetic etiology to improve patient care.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
09:57Electromagnetic Source Imaging in Presurgical Evaluation of Children with Drug-Resistant Epilepsy
Published on: September 20, 2024
Related Concept Videos
Epilepsy and Seizures: Overview
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
Epilepsy ll: Types
Seizures: Classification
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:
Pharmacogenomics: Identification of New Drug Targets
Seizures l: Introduction
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...