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

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...

You might also read

Related Articles

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

Sort by
Same authorSame journal

Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.

European journal of human genetics : EJHG·2026
Same author

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics·2026
Same authorSame journal

Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.

European journal of human genetics : EJHG·2026
Same author

Turbocharging synaptic transmission: 12 SNAREpins are required for rapid release of reconstituted synaptic vesicles.

Science advances·2026
Same author

<i>TRAPPC9</i>-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant.

Genes·2026
Same author

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Brain : a journal of neurology·2026

Related Experiment Video

Updated: Jun 9, 2026

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

9.0K

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Allan Bayat1,2, Maria Carla Borroto3, Smrithi Salian3

  • 1Department of Pediatrics, Danish Epilepsy Center, Dianalund, Denmark. abaya@filadelfia.dk.

European Journal of Human Genetics : EJHG
|September 17, 2025
PubMed
Summary
This summary is machine-generated.

Biallelic variants in PIGC cause a severe neurodevelopmental disorder with refractory seizures and early mortality. This study confirms PIGC variants disrupt glycophosphatidylinositol-anchored protein biosynthesis.

More Related Videos

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

15.6K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

11.4K

Related Experiment Videos

Last Updated: Jun 9, 2026

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

9.0K
Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

15.6K
Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

11.4K

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Biochemistry

Background:

  • PIGC gene is crucial for glycophosphatidylinositol-anchored protein (GPI-AP) biosynthesis.
  • Previous reports linked biallelic PIGC variants to developmental delay, intellectual disability, and seizures.

Purpose of the Study:

  • To characterize the clinical and biomolecular features of PIGC pathogenic variants.
  • To expand the understanding of PIGC-related neurodevelopmental disorders.

Main Methods:

  • Established a cohort of 18 unreported probands with PIGC variants.
  • Collected clinical data and identified variants via genome/exome sequencing.
  • Utilized in silico modeling (AlphaFold2) and flow cytometry for GPI-AP analysis.

Main Results:

  • Identified severe neurodevelopmental disorder in probands, including cognitive impairment, treatment-resistant seizures, and premature death in 10/18 individuals.
  • Observed brain imaging abnormalities, hypotonia, and skeletal anomalies in affected individuals.
  • Confirmed reduced cell-surface GPI-AP levels in proband samples and cellular models.

Conclusions:

  • Biallelic PIGC variants are associated with refractory seizures, severe developmental impairments, and childhood mortality.
  • Dysfunctional PIGC leads to defective GPI-AP biosynthesis.
  • This study expands the phenotypic spectrum and molecular understanding of PIGC-related disorders.