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Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

1.7K
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...
1.7K
Epilepsy ll: Types01:22

Epilepsy ll: Types

35
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.
35
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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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
31.2K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

30.1K
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Related Experiment Video

Updated: Apr 28, 2026

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

Published on: June 6, 2025

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[Genetic aberrations and epilepsy].

Atsushi Ishii, Shinichi Hirose

    Nihon Rinsho. Japanese Journal of Clinical Medicine
    |June 11, 2014
    PubMed
    Summary
    This summary is machine-generated.

    Genetic analysis aids in diagnosing and treating epilepsy, particularly familial forms. Advances in sequencing technologies are improving our understanding of epilepsy

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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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    Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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    Last Updated: Apr 28, 2026

    Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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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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    Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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    Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

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    Area of Science:

    • Neurogenetics
    • Molecular Neurology

    Context:

    • Epilepsy is a common central nervous system disorder with unclear molecular pathogenesis.
    • Familial epilepsy has established genetic links to ion channels and receptors.
    • Sporadic epilepsy research has benefited from next-generation sequencing.

    Purpose:

    • To describe epilepsies where genetic analysis is valuable.
    • To highlight the role of new technologies in epilepsy research.
    • To discuss future directions in understanding and treating epilepsy.

    Summary:

    • Over 400 genes are now implicated in epilepsy.
    • Genetic abnormalities are crucial for epilepsy diagnosis, treatment, and counseling.
    • Despite advances, the precise molecular mechanisms of epilepsy remain under investigation.

    Impact:

    • Genetic findings improve diagnostic accuracy and treatment strategies for epilepsy.
    • Technological advancements accelerate the discovery of epilepsy-related genes.
    • Enhanced understanding of genetic underpinnings promises improved patient outcomes and personalized medicine approaches for epilepsy.