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

Enhanced detection of subtle cortical abnormalities in focal epilepsy using 7 T MRI surface-based models and graph neural networks.

Neuroradiology·2026
Same author

Seizure worsening and sodium channel blockers in HCN1-related epilepsies: A case series.

Developmental medicine and child neurology·2026
Same author

Disrupted dynamics of transient brain states in patients with brain tumors: a co-activation pattern analysis of resting-state fMRI.

La Radiologia medica·2026
Same author

Pediatric epilepsy surgery: Global survey of referral and presurgical evaluation practices.

Epilepsia·2026
Same author

On-site exposure to clinical epilepsy practice for experimental scientists engaged in epilepsy research: A pilot study by the ILAE commission on neurobiology.

Epilepsia open·2026
Same author

Beyond Broca and Wernicke: Epilepsy surgery in the language areas.

Epileptic disorders : international epilepsy journal with videotape·2026
Same journal

A neuroimaging meta-analysis on social impression formation of stable characteristics.

Cerebral cortex (New York, N.Y. : 1991)·2026
Same journal

An expanded cortical map of von Economo neurons in the human medial prefrontal cortex.

Cerebral cortex (New York, N.Y. : 1991)·2026
Same journal

For better and worse: neural self-partner overlap during social feedback is associated with relationship satisfaction and depressive symptoms.

Cerebral cortex (New York, N.Y. : 1991)·2026
Same journal

Regions in the human inferior temporal gyrus are engaged in numerosity processing across visual stimulus categories.

Cerebral cortex (New York, N.Y. : 1991)·2026
Same journal

Differentiation of cortical areas: effects of free energy minimization with broken symmetry.

Cerebral cortex (New York, N.Y. : 1991)·2026
Same journal

Prior exposure to speech rapidly modulates cortical processing of high-level linguistic structure.

Cerebral cortex (New York, N.Y. : 1991)·2026
See all related articles

Related Experiment Video

Updated: Dec 17, 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

8.9K

Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy.

Matteo Lenge1,2,3, Carla Marini4, Edoardo Canale5

  • 1Child Neurology Unit and Laboratories, Neuroscience Department, Children's Hospital A. Meyer - University of Florence, 50139 Florence, Italy.

Cerebral Cortex (New York, N.Y. : 1991)
|June 26, 2020
PubMed
Summary
This summary is machine-generated.

Protocadherin-19 (PCDH19) gene mutations are linked to developmental encephalopathy. Quantitative MRI reveals reduced gyrification and white matter changes in the limbic system of affected individuals.

Keywords:
PCDH19 encephalopathyautismepilepsygyrification indexlimbic formation

More Related Videos

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

12.5K
Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
05:52

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy

Published on: October 28, 2022

957

Related Experiment Videos

Last Updated: Dec 17, 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

8.9K
Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
09:06

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

12.5K
Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy
05:52

Early Pathological and Magnetic Resonance Detection of Cerebral Injury Using a Rat Model of Neonatal Hypoxic Ischemic Encephalopathy

Published on: October 28, 2022

957

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Protocadherin-19 (PCDH19) is crucial for neuronal circuit formation, particularly in limbic structures.
  • Mutations in the PCDH19 gene cause a developmental encephalopathy characterized by infantile-onset seizures, intellectual disability, and autistic features.
  • Standard neuroimaging often fails to detect abnormalities in PCDH19-related disorders.

Purpose of the Study:

  • To investigate cortical and white matter structural changes in patients with PCDH19 mutations using quantitative MRI.
  • To correlate neuroimaging findings with clinical severity, including seizure onset, cognitive impairment, and psychiatric manifestations.

Main Methods:

  • Quantitative MRI was performed on 20 patients with PCDH19 mutations and compared to age- and sex-matched controls.
  • Analysis focused on local gyrification index (lGI) in cortical areas and diffusivity in white matter.
  • Statistical comparisons were used to identify significant differences between patient and control groups.

Main Results:

  • Patients with PCDH19 mutations showed bilateral reductions in lGI within limbic cortical areas (parahippocampal, entorhinal cortex, fusiform, lingual gyri).
  • Altered white matter diffusivity was observed in the limbic regions underlying these cortical areas.
  • More severe reductions in lGI and diffusivity abnormalities correlated with earlier seizure onset and greater cognitive and psychiatric impairment.

Conclusions:

  • Developmental abnormalities in limbic structures, including reduced cortical folding and white matter organization, are measurable in PCDH19-mutated individuals.
  • These structural changes likely underlie the cognitive, communicative, and epileptogenic features of PCDH19 deficiency syndrome.
  • Quantitative MRI provides a valuable tool for understanding the neuroanatomical basis of PCDH19-related disorders.