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

Human Genetics01:28

Human Genetics

611
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
611
Disorders of the Nervous Tissue01:28

Disorders of the Nervous Tissue

1.4K
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
1.4K
Sex-linked Disorders01:43

Sex-linked Disorders

102.4K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.4K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

194
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
194
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

596
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
596
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

743
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
743

You might also read

Related Articles

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

Sort by
Same author

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

European journal of human genetics : EJHG·2026
Same author

Cerebral, spinal, ophthalmological and skeletal findings associated with abusive and non-abusive head injury in children under 2 years old: A systematic review.

Child abuse & neglect·2026
Same author

Kv7.2 loss-of-function causes early hyperexcitability and network remodelling.

Brain : a journal of neurology·2026
Same author

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
Same author

Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.

Genome research·2026
Same author

Developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep: Pathophysiological insights and treatment options.

Epilepsia·2026
Same journal

Five Issues of Artificial Intelligence in Science: Sailing the Ship of Theseus.

Annals of neurology·2026
Same journal

Reply to "Clinical Value of Aneurysm Wall Enhancement in Unruptured Intracranial Aneurysm".

Annals of neurology·2026
Same journal

Clinical Value of Aneurysm Wall Enhancement in Unruptured Intracranial Aneurysm.

Annals of neurology·2026
Same journal

Imaging of Neurovascular Compression in Thoracic Outlet Syndrome.

Annals of neurology·2026
Same journal

Reply to "Methodological Challenges in Interpreting SAA-Defined Imaging Subgroups in Parkinson's Disease".

Annals of neurology·2026
Same journal

Methodological Challenges in Interpreting SAA-Defined Imaging Subgroups in Parkinson's Disease.

Annals of neurology·2026
See all related articles

Related Experiment Video

Updated: Jul 18, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.3K

GABRA1-Related Disorders: From Genetic to Functional Pathways.

Elisa Musto1,2,3, Vivian W Y Liao4, Katrine M Johannesen1,5

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

Annals of Neurology
|August 22, 2023
PubMed
Summary
This summary is machine-generated.

Genetic variants in GABRA1 cause a spectrum of epilepsies. Loss-of-function variants in certain regions lead to milder epilepsy, while gain-of-function variants in transmembrane helices cause severe neurodevelopmental disorders.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.7K
Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

12.0K

Related Experiment Videos

Last Updated: Jul 18, 2025

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

9.3K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

13.7K
Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration
07:46

Gait Analysis of Age-dependent Motor Impairments in Mice with Neurodegeneration

Published on: June 18, 2018

12.0K

Area of Science:

  • Neuroscience
  • Genetics
  • Epilepsy Research

Background:

  • GABRA1 variants are linked to diverse epilepsy types, from generalized epilepsies to developmental and epileptic encephalopathies.
  • Current understanding of genotype-phenotype correlations and optimal treatments for GABRA1-related disorders is insufficient.

Purpose of the Study:

  • To analyze electroclinical features and functional effects of GABRA1 variants.
  • To establish genotype-phenotype correlations for GABRA1-related epilepsies.

Main Methods:

  • Collected genetic and electroclinical data from 27 individuals with 20 different GABRA1 variants.
  • Performed functional analysis for 19 of the identified GABRA1 variants.

Main Results:

  • Phenotype severity correlated with variant location and functional effect.
  • Variants in extracellular domains/transmembrane loops with loss-of-function (LoF) effects were associated with milder epilepsy and favorable outcomes.
  • Variants in pore-forming transmembrane helices, including gain-of-function (GoF) and LoF, were linked to severe early-onset neurodevelopmental disorders and epileptic encephalopathies.

Conclusions:

  • Delineated specific subphenotypes for LoF and GoF GABRA1 variants, expanding the known spectrum.
  • Transmembrane helix variants, particularly GoF variants, generally result in more severe phenotypes.
  • Findings support a precision medicine approach for GABRA1-related disorders by clarifying pathomechanisms.