Jove
Visualize
Contact Us
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

Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

982
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...
982
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
Seizures: Classification01:13

Seizures: Classification

1.1K
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:
1.1K

You might also read

Related Articles

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

Sort by
Same author

Bioengineered AAV9 and Optimised Microdystrophin Vectors Augment Phenotypic Rescue in a Murine Model of Duchenne Muscular Dystrophy.

Journal of cellular and molecular medicine·2026
Same author

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

European journal of human genetics : EJHG·2024
Same author

CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.

Indian journal of pediatrics·2024
Same author

The molecular landscape of oculocutaneous albinism in India and its therapeutic implications.

European journal of human genetics : EJHG·2023
Same author

Reversal of Clinical Phenotype of Sotos Syndrome Due to Microduplication of NSD1 Gene.

Indian journal of pediatrics·2022
Same author

Fragile X Syndrome Due to a Frameshift Deletion: A Rare Mechanism.

Indian journal of pediatrics·2022
Same journal

Bilateral Parotid Enlargement as an Initial Manifestation of Pediatric Acute Lymphoblastic Leukemia.

Indian journal of pediatrics·2026
Same journal

Hemorrhagic Cardiac Tamponade Due to MRSA Sepsis in a Child with Relapsed Acute Lymphoblastic Leukemia: Authors' Reply.

Indian journal of pediatrics·2026
Same journal

A Prospective Model for Detecting Missed Appendicitis in Low-Risk Pediatric Patients: Correspondence.

Indian journal of pediatrics·2026
Same journal

Serum Periostin as a Biomarker in Pediatric Asthma: Findings from a Case-Control Study - Authors' Reply.

Indian journal of pediatrics·2026
Same journal

When the Eye Peels: An Unusual Harbinger of Kawasaki Disease - Correspondence.

Indian journal of pediatrics·2026
Same journal

Pediatric Sleep-Related Laryngospasm: Cause of Nocturnal Respiratory Distress.

Indian journal of pediatrics·2026
See all related articles

Related Experiment Video

Updated: Dec 4, 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

915

Genetic Testing in Pediatric Epilepsy.

Ishwar C Verma1, Sameer Bhatia2, Veronica Arora2

  • 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India. icverma@gmail.com.

Indian Journal of Pediatrics
|October 22, 2020
PubMed
Summary
This summary is machine-generated.

Genetic testing is crucial for diagnosing childhood epilepsy, guiding treatment, and assessing recurrence risks. This approach offers personalized care and reproductive options for families affected by genetic epilepsy.

Keywords:
BenefitsEpilepsy genesGenetic counselingGenetic testing technologyIndicationsYield

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
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.2K

Related Experiment Videos

Last Updated: Dec 4, 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

915
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
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

3.2K

Area of Science:

  • Clinical Genetics
  • Pediatric Neurology
  • Epilepsy Research

Background:

  • Next-generation sequencing has increased genetic studies in pediatric epilepsy.
  • Genetic testing is now integral to epilepsy management.
  • Identifying genetic variants aids in diagnosis and prognosis.

Purpose of the Study:

  • To outline the benefits of genetic testing in pediatric epilepsy.
  • To detail clinical scenarios necessitating genetic evaluation.
  • To guide the selection of appropriate genetic tests and interpret their yields.

Main Methods:

  • Review of current literature on genetic testing in childhood epilepsy.
  • Description of available genetic testing modalities.
  • Guidance on choosing the most suitable genetic test based on clinical presentation.

Main Results:

  • Genetic testing facilitates etiological diagnosis and prognostic information.
  • It enables tailored therapy and avoidance of contraindicated medications.
  • Pathogenic variants inform recurrence risk assessment and reproductive choices.

Conclusions:

  • Genetic testing offers significant benefits in managing pediatric epilepsy.
  • Understanding genetic causes allows for precise therapeutic strategies.
  • Genetic counseling is essential for patients and families navigating epilepsy genetics.