Related Experiment Video

Updated: Dec 12, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.1K

Genetic testing in adult epilepsy patients: A call to action for clinicians

Guido Rubboli1,2, Rikke S Møller1,3, Katrine M Johannesen1,3

  • 1Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Dianalund, Denmark.

Epilepsia
|August 13, 2020
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A 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

8.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.2K

Related Experiment Videos

Last Updated: Dec 12, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.1K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A 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

8.9K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.2K

Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

1.0K
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...
1.0K
Genetic Screens02:46

Genetic Screens

5.4K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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...
5.4K

Articles linked to this work by shared authors, journal, and citation graph.

Functional (dissociative) seizures in PCDH19-clustering epilepsy: Clinical characteristics and diagnostic challenges.

Epileptic disorders : international epilepsy journal with videotape·2026

Genetic testing practices across European epilepsy centers: An ERN EpiCARE survey.

Epilepsia open·2026

Monitoring Antiseizure Medication Change Using Ultra Long-Term Electroencephalogram: A Multicenter Study.

Annals of neurology·2026

Preoperative limbic cortical thinning in mesial temporal lobe epilepsy surgical candidates is associated with pre-existing and de novo postoperative depression.

Epileptic disorders : international epilepsy journal with videotape·2026

Add-on treatment with vinpocetine reduces seizure frequency and improves comorbidities in patients with loss-of-function γ-aminobutyric acid type A receptor variants.

Epilepsia·2026

Unsupervised clustering of electroclinical features in temporal lobe epilepsy: A data-driven approach.

Epileptic disorders : international epilepsy journal with videotape·2026

Enhancing quality of mental health service for veterans with seizures.

Epilepsia·2026

Incidence and impact of respiratory tract infections on outcomes in patients with status epilepticus: A 20-year longitudinal observation.

Epilepsia·2026

The role of MEG cluster characteristics in defining the epileptogenic zone: A retrospective study of 101 seizure-free patients.

Epilepsia·2026

Statin use and risk of remote seizure after first new onset status epilepticus.

Epilepsia·2026

VENI, VIDI, VICI: The advantage of early epilepsy surgery in drug-sensitive patients.

Epilepsia·2026

Relationship between cognitive functioning and diffusion tensor imaging analysis along perivascular spaces as a diffusion magnetic resonance imaging marker of perivascular directional diffusivity in functional seizures after traumatic brain injury.

Epilepsia·2026

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report.

Frontiers in neuroscience·2026

Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature.

Frontiers in endocrinology·2026

Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets.

Cell reports. Medicine·2026

ADNP-Related Helsmoortel-Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring.

American journal of medical genetics. Part A·2026

Parsing heterogeneity in autism spectrum disorder.

Science (New York, N.Y.)·2026

A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.

Case reports in genetics·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us