Gene variants in periventricular nodular heterotopia.
Jianping Song1, Xiaoqin Sun1, Chunqing Zhang2
1Department of Neurosurgery, Epilepsy Research Center of PLA, Xinqiao Hospital, Army Medical University, 183 Xinqiao Main Street, Shapingba District, Chongqing, 400037, China.
Acta Epileptologica
|May 1, 2026
Summary
Periventricular nodular heterotopia (PVNH) is a brain malformation causing epilepsy. This review updates the spectrum of PVNH-associated risk genes and discusses their role in pathogenesis using models.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Periventricular nodular heterotopia (PVNH) is a malformation of cortical development resulting from abnormal neuronal migration.
- PVNH is a significant cause of genetic epilepsy, with seizures often manifesting in childhood or adolescence.
Purpose of the Study:
- To provide an updated spectrum of genes associated with Periventricular nodular heterotopia.
- To review clinical manifestations in patients with PVNH and discuss underlying genetic causes.
- To explore the pathogenesis of PVNH using human cerebral organoids and animal models.
Main Methods:
- Chronological summarization of clinically reported PVNH risk genes.
- Description of clinical manifestations associated with each gene.
- Discussion of findings from human cerebral organoids and animal models.
Main Results:
- The FLNA gene is strongly correlated with PVNH, but other risk genes remain understudied.
- An urgent need exists for an updated spectrum of PVNH-associated risk genes.
- Clinical data and model systems are crucial for understanding PVNH pathogenesis.
Conclusions:
- Understanding the genetic heterogeneity of PVNH is critical for diagnosis and treatment.
- Further research into novel risk genes and pathogenic mechanisms is warranted.
- Cerebral organoid and animal models offer valuable insights into PVNH development.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
11.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K
02:30Histone Variants at the Centromere
4.0K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.0K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
138
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
138
01:05Single Nucleotide Polymorphisms-SNPs
14.6K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
14.6K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
805
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
805
03:14Notch Signaling Pathway
4.6K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.6K