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

You might also read

Related Articles

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

Sort by
Same author

Comparison of efficacy of low glycemic index treatment and modified Atkins diet among children with drug-resistant epilepsy: A randomized non-inferiority trial.

Epilepsia·2025
Same author

Randomised placebo-controlled trial of triclofos versus melatonin for sedating children undergoing sleep EEG.

Archives of disease in childhood·2024
Same author

Comorbidities in children with cerebral palsy: a single-centre cross-sectional hospital-based study from India.

BMJ open·2023
Same author

Hypoglycaemia in high-risk neonates on exclusive breastfeeding.

Medical journal, Armed Forces India·2023
Same author

Reply to Correspondence "Heterogeneous Manifestation of <i>POLG</i>1 Variants".

Journal of child neurology·2022
Same author

Clinical and molecular spectrum associated with Polymerase-γ related disorders.

Journal of child neurology·2022

Related Experiment Video

Updated: Oct 3, 2025

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

Two Novel Compound Heterozygous ADGRG1/GPR56 Mutations Associated with Diffuse Cerebral Polymicrogyria.

Ruchika Jha1, Uday B Kovilapu2, Amit Devgan1

  • 1Department of Pediatrics, Armed Forces Medical College, Pune, Maharashtra, India.

Journal of Pediatric Genetics
|February 21, 2022
PubMed
Summary
This summary is machine-generated.

Two novel mutations in the ADGRG1/GPR56 gene were identified in an 8-year-old boy with polymicrogyria. This finding expands the known genetic causes of this rare brain malformation.

Keywords:
cortical malformationsdrug resistant epilepsyintellectual disability

More Related Videos

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM
09:25

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM

Published on: May 8, 2020

10.8K
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

588

Related Experiment Videos

Last Updated: Oct 3, 2025

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
Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM
09:25

Lineage Tracing and Clonal Analysis in Developing Cerebral Cortex Using Mosaic Analysis with Double Markers MADM

Published on: May 8, 2020

10.8K
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

588

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Polymicrogyria (PMG) is a cortical malformation with diverse genetic and environmental causes.
  • Understanding the genetic underpinnings of PMG is crucial for diagnosis and counseling.

Observation:

  • A case report details an 8-year-old boy with diffuse polymicrogyria, intellectual disability, spastic quadriparesis, and intractable epilepsy.
  • Brain MRI revealed PMG with a specific lobe distribution and a thinned brain stem.
  • The patient had no apparent antenatal or perinatal insults.

Findings:

  • Targeted exome sequencing identified two novel compound heterozygous mutations in the ADGRG1/GPR56 gene (c.C209T and c.1010dupT).
  • Each parent carried one of the identified mutations.
  • Genetic analysis confirmed the same mutations in a subsequent fetus, leading to termination.

Implications:

  • These novel ADGRG1/GPR56 mutations expand the known genetic spectrum of polymicrogyria.
  • This discovery aids in understanding the etiology of PMG and provides valuable genetic information for affected families.
  • Accurate genetic diagnosis can help families make informed reproductive decisions.