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

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

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.
Genetic Lingo01:11

Genetic Lingo

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Pedigree Analysis01:35

Pedigree Analysis

Overview
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...

You might also read

Related Articles

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

Sort by
Same author

Beyond seizures: proceedings of the ERN EpiCARE working group 18 on developmental and epileptic encephalopathies.

Epilepsy & behavior : E&B·2026
Same author

Hemispheric surgery for hemimegalencephaly and hemispheric cortical dysplasia in infants below 12 months of age-A single-center experience.

Epilepsia·2026
Same author

Pediatric tuberous sclerosis complex: assessment of multidisciplinary follow-up in an expert center.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Same author

Areas of research priorities in epilepsy: A position paper of the European Reference Network for Rare and Complex Epilepsies, EpiCARE.

Epilepsia open·2026
Same author

Trifluoperazine, an Antipsychotic Drug, Inhibits Viability of Cells Derived From SEGA and Cortical Tubers Cultured In Vitro.

Journal of neurochemistry·2025
Same author

Differences in the neuropsychological profiles of high-functioning TSC adults with and without epilepsy.

Seizure·2025

Related Experiment Video

Updated: Jun 11, 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

Gene table: monogenic determined neurocutaneous disorders.

Sergiusz Jóźwiak1, Katarzyna Kotulska

  • 1Department of Neurology and Epileptology, The Children's Memorial Health Institute, Al Dzieci Polskich 20, 04-783 Warszawa, Poland. s.jozwiak@czd.pl

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|June 29, 2010
PubMed
Summary

Neurocutaneous disorders frequently cause epilepsy and developmental delays. This review details the molecular basis of inherited neurocutaneous disorders, advancing understanding of their pathogenesis.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Related Experiment Videos

Last Updated: Jun 11, 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

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Neurocutaneous disorders are a group of genetic conditions affecting the skin and nervous system.
  • These disorders are commonly linked to neurological issues such as epilepsy and psychomotor development delay.
  • Recent advancements have significantly improved the understanding of their underlying molecular mechanisms.

Purpose of the Study:

  • To provide a concise review of the molecular pathogenesis of monogenic neurocutaneous disorders.
  • To consolidate current knowledge on the genetic underpinnings of these conditions.

Main Methods:

  • Literature review of recent research on monogenic neurocutaneous disorders.
  • Analysis of molecular pathways involved in the pathogenesis of these conditions.

Main Results:

  • Identified key molecular pathways and genetic mutations responsible for various monogenic neurocutaneous disorders.
  • Highlighted the heterogeneity in molecular mechanisms across different neurocutaneous conditions.

Conclusions:

  • Understanding the molecular background is crucial for diagnosing and potentially treating neurocutaneous disorders.
  • Further research into these molecular mechanisms may lead to targeted therapeutic strategies.