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Related Concept Videos

Epilepsy ll: Types01:22

Epilepsy ll: Types

47
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.
47
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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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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Sex-linked Disorders01:43

Sex-linked Disorders

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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.
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Seizures ll: Types01:19

Seizures ll: Types

36
Seizures are sudden bursts of abnormal electrical discharge in the brain that interfere with normal function. They are commonly divided into three groups: focal seizures, generalized seizures, and other types that do not fit neatly into either category.Focal SeizuresFocal seizures begin in a single brain region. When awareness is preserved, they are called focal aware seizures and may cause sensations such as tingling, unusual smells, or flashing lights. When awareness is impaired, they are...
36
Pleiotropy01:33

Pleiotropy

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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,...
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ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

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Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies.

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DNM1-related disorder is characterized by recurrent variants and phenotypic homogeneity.

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A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

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Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i>-associated epilepsy.

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Related Experiment Video

Updated: May 1, 2026

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
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DEPDC5 does it all: shared genetics for diverse epilepsy syndromes

Annapurna Poduri1

  • 1Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology Department of Neurology, Boston Children's Hospital, Boston, MA.

Annals of Neurology
|April 23, 2014
PubMed
Summary

No abstract available in PubMed .

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