Related Experiment Video

Updated: Oct 1, 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

585

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study

Jing Duan1, Yuanzhen Ye1, Dezhi Cao1

  • 1Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.

Brain : a Journal of Neurology
|March 1, 2022
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

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

2.9K
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

8.7K

Related Experiment Videos

Last Updated: Oct 1, 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

585
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

2.9K
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

8.7K

Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

321
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...
321
Seizures: Classification01:13

Seizures: Classification

636
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:
636

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

Research on Shaft-Rate Magnetic Field Detection Method for Underwater Targets Based on Differential High-Order Dual-Coupled Duffing Oscillators.

Sensors (Basel, Switzerland)·2026

Impact of the Western China epilepsy initiative on epilepsy care capacity in underserved regions: a nationwide cross-sectional survey.

Epilepsy & behavior : E&B·2026

Development and Validation of a Rapid Benefit-Risk Assessment Index for Pediatric Off-Label Drug Use.

Journal of evidence-based medicine·2026

Influenza virus infection during pregnancy: a review of risk factors, pathogenic mechanisms, and prevention strategies.

Frontiers in immunology·2026

Contribution of Disruption in Creatine Synthesis and Transporter to 6-PPD Quinone Induced Immunosuppression in Caenorhabditis elegans.

Toxics·2026

Vagus nerve stimulation for patients with tuberous sclerosis complex-related drug-resistant epilepsy: A prospective cohort study.

Epilepsia·2026

Neuronavigated dual-target transcranial magnetic stimulation for schizophrenia negative symptoms.

Brain : a journal of neurology·2026

Extracellular vesicle α-synuclein topology reveals disease-associated conformers in brain and blood.

Brain : a journal of neurology·2026

Biallelic variants in PIKFYVE cause a hypomyelinating leukodystrophy with endolysosomal dysfunction.

Brain : a journal of neurology·2026

Target engagement and efficacy in disease-modifying trials of synuclein-related disorders.

Brain : a journal of neurology·2026

The genetic landscape of myotonic dystrophy type 1: insights from nearly one million genomes.

Brain : a journal of neurology·2026

White matter hyperintensity burden in amyotrophic lateral sclerosis: motor and survival correlates.

Brain : a journal of neurology·2026

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations.

Journal of clinical laboratory analysis·2026

Advancing genetic pathogenicity prediction with three-dimensional proteoform-phenotype analysis.

medRxiv : the preprint server for health sciences·2026

Genetic Spectrum and Family-Based Cascade Screening in Vietnamese Families With Autosomal Dominant Polycystic Kidney Disease.

Nephrology (Carlton, Vic.)·2026

Construction of an AI-Assisted Pedigree Mapping System for Hereditary Gynecological Tumors: Algorithm Development and Pilot Validation Study.

JMIR medical informatics·2026

Characteristics of predicated pathogenic missense variants in human genes for Mendelian disorders.

Frontiers in bioinformatics·2026

Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia.

BMC medical genomics·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