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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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%...
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

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Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
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Epilepsy ll: Types01:22

Epilepsy ll: Types

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Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
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Seizures: Classification01:13

Seizures: Classification

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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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...
135

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Related Experiment Video

Updated: Apr 25, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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CNVs in Epilepsy.

Heather C Mefford1

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington, RR349A, Box 356320, Seattle, WA USA.

Current Genetic Medicine Reports
|August 26, 2014
PubMed
Summary
This summary is machine-generated.

Copy number variants (CNVs), which are DNA deletions or duplications, are increasingly linked to epilepsy. Recent studies highlight their role as a significant source of mutation in various epilepsy forms.

Keywords:
Copy number variantsEpilepsyMicrodeletionsNeurodevelopmental disorders

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Detection of Copy Number Alterations Using Single Cell Sequencing
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Detection of Copy Number Alterations Using Single Cell Sequencing
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Area of Science:

  • Genetics
  • Genomics
  • Neuroscience

Background:

  • Copy number variants (CNVs), defined as deletions or duplications in DNA, represent a significant source of genetic variation and pathogenic mutations.
  • CNVs are increasingly implicated in various diseases, including epilepsy, contributing to both normal variation and disease risk.

Approach:

  • Genome-wide technologies enable the discovery of CNVs across large patient and control cohorts.
  • This approach facilitates the identification of specific CNVs associated with increased disease risk.

Key Points:

  • Over the last five years, research has confirmed that both recurrent and non-recurrent CNVs are crucial mutational factors in patients with diverse forms of epilepsy.
  • Studies are identifying specific CNVs that confer increased risk for developing epilepsy.

Conclusions:

  • CNVs are a key genetic factor in the etiology of epilepsy.
  • Understanding CNV implications is vital for clinical diagnosis and potential therapeutic strategies in epilepsy management.