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

Genetic Lingo01:11

Genetic Lingo

109.2K
Overview
109.2K
Pleiotropy01:33

Pleiotropy

41.9K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.9K
Multiple Allele Traits01:49

Multiple Allele Traits

36.6K
The Concept of Multiple Allelism
36.6K
Incomplete Dominance01:43

Incomplete Dominance

28.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
28.6K
Genetic Variation01:25

Genetic Variation

986
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
986
Pedigree Analysis01:35

Pedigree Analysis

87.0K
Overview
87.0K

You might also read

Related Articles

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

Sort by
Same author

Clinical application of magnetic resonance elastography in pediatric neurological disorders.

Pediatric radiology·2023
Same author

Epilepsy and Electroencephalogram Characteristics in Children with Neurofibromatosis Type 1, What We Have Learned from a Tertiary Center Five Years' Experience.

Child neurology open·2022
Same author

Para and Post-COVID-19 CNS Acute Demyelinating Disorders in Children: A Case Series on Expanding the Spectrum of Clinical and Radiological Characteristics.

Cureus·2022
Same author

Convulsive Status Epilepticus in a Child With Controlled Epilepsy and Concurrent COVID-19 Infection: A Case Report and a Quick Review.

Clinical medicine insights. Case reports·2021
Same author

Letter in Reply: "Neonatal Bell's Palsy and Possible Correlation with Human Leukocyte Antigens".

Oman medical journal·2019
Same author

Idiopathic Non-traumatic Facial Nerve Palsy (Bell's Palsy) in Neonates; An Atypical Age and Management Dilemma.

Oman medical journal·2018

Related Experiment Video

Updated: Nov 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K

Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations.

Abdulhafeez M Khair1, Alana E Salvucci1

  • 1Thomas Jefferson University, Sidney Kimmel Medical College, duPont Hospital for Children, Wilmington DE, USA.

Oman Medical Journal
|April 15, 2021
PubMed
Summary
This summary is machine-generated.

Mutations in the GABRB3 gene are linked to neurological disorders. This study presents three cases, expanding the known clinical spectrum and variable expression associated with GABRB3 gene mutations in children.

Keywords:
MutationPhenotypeReceptors, GABAgamma-Aminobutyric Acid

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.1K

Related Experiment Videos

Last Updated: Nov 9, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

23.1K

Area of Science:

  • Neurogenetics
  • Molecular Biology
  • Clinical Neurology

Background:

  • The GABRB3 gene, located on chromosome 15q12, encodes the beta-3 subunit of the gamma-aminobutyric acid (GABA) A receptor.
  • This subunit plays a crucial role in inhibitory GABAergic neurotransmission and is expressed in key brain regions like the cerebral cortex, thalamus, hippocampus, and cerebellum.
  • Dysfunction of GABRB3 has been implicated in various neurological disorders, but the full spectrum of associated conditions remains incompletely understood.

Observation:

  • Three pediatric cases with mutations in the GABRB3 gene were analyzed.
  • These cases exhibited a range of clinical manifestations, underscoring the variable expressivity of GABRB3-related disorders.
  • Detailed clinical and genetic information was gathered to characterize the phenotype.

Findings:

  • The study identified novel mutations within the GABRB3 gene.
  • Clinical presentations varied significantly among the affected children, suggesting a broad phenotypic spectrum.
  • The findings highlight the complex relationship between GABRB3 genotype and neurological phenotype.

Implications:

  • This research expands the known clinical phenotype associated with GABRB3 gene mutations.
  • It emphasizes the importance of considering GABRB3 in the genetic diagnosis of unexplained neurological conditions in children.
  • Further investigation into GABRB3 function and its role in neurological development is warranted.