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Related Concept Videos

Neurulation01:30

Neurulation

Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the anterior...
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...

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Related Experiment Video

Updated: May 11, 2026

Ex utero Electroporation and Whole Hemisphere Explants: A Simple Experimental Method for Studies of Early Cortical Development
13:47

Ex utero Electroporation and Whole Hemisphere Explants: A Simple Experimental Method for Studies of Early Cortical Development

Published on: April 3, 2013

Diffuse malformations of cortical development.

Nadia Bahi-Buisson1, Renzo Guerrini

  • 1Department of Pediatric Neurology, UniversitĂ© Paris Descartes; Imaging Institute; INSERM U781, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary
This summary is machine-generated.

Malformations of cortical development (MCD) are a key cause of epilepsy and developmental delays. Genetic mutations in genes like LIS1, DCX, ARX, RELN, TUBA1A, GPR56, SRPX2, and FLNA are linked to various MCD subtypes.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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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

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Last Updated: May 11, 2026

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13:47

Ex utero Electroporation and Whole Hemisphere Explants: A Simple Experimental Method for Studies of Early Cortical Development

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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

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Malformations of cortical development (MCD) are a significant cause of pediatric developmental disabilities and epilepsy.
  • Recent advancements in neuroimaging and genetic analysis have enhanced the classification and diagnosis of MCD.
  • Eight genes are currently implicated in various MCD subtypes, highlighting the genetic complexity of these conditions.

Purpose of the Study:

  • To review the current understanding of genetic mutations associated with different types of malformations of cortical development.
  • To correlate specific genetic mutations with distinct MCD phenotypes observed in clinical and imaging studies.
  • To emphasize the role of neuroimaging and clinical findings in inferring causative genes for MCD.

Main Methods:

  • Literature review of studies investigating genetic causes of MCD.
  • Analysis of genotype-phenotype correlations in patients with lissencephaly, polymicrogyria, and heterotopia.
  • Correlation of neuroimaging findings with genetic mutations in affected individuals.

Main Results:

  • Mutations in LIS1 and DCX genes cause lissencephaly-pachygyria and subcortical band heterotopia (SBH), with distinct patterns based on gene and sex.
  • ARX gene mutations are linked to X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia.
  • RELN, TUBA1A, GPR56, SRPX2, and FLNA genes are associated with other MCD subtypes, including lissencephaly with cerebellar hypoplasia and polymicrogyria.

Conclusions:

  • A growing number of genes are identified as causative for diverse MCD subtypes.
  • Neuroimaging and clinical presentation are crucial for guiding genetic testing and diagnosing MCD.
  • Understanding the genetic basis of MCD is essential for accurate diagnosis, prognosis, and potential therapeutic strategies.