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Related Concept Videos

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

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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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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...
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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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Mutations in Microorganisms01:18

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Genetic mutations associated with status epilepticus.

M Bhatnagar1, S Shorvon1

  • 1UCL Institute of Neurology, University College London, UK.

Epilepsy & Behavior : E&B
|May 19, 2015
PubMed
Summary
This summary is machine-generated.

Genetic mutations linked to status epilepticus are rare and primarily affect young children with other health issues. No single gene causes status epilepticus, suggesting complex genetic influences rather than a failure of seizure termination mechanisms.

Keywords:
Cerebral dysplasiaEpileptic encephalopathyGeneticsInborn errors of metabolismMitochondrial diseaseStatus epilepticus

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Electroconvulsive Seizures in Rats and Fractionation of Their Hippocampi to Examine Seizure-induced Changes in Postsynaptic Density Proteins
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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Status epilepticus (SE) is a neurological emergency with complex underlying mechanisms.
  • Understanding the genetic basis of SE is crucial for diagnosis and treatment.
  • Previous research has explored genetic links to epilepsy, but SE may have distinct genetic underpinnings.

Purpose of the Study:

  • To conduct a preliminary literature search for genetic mutations strongly associated with status epilepticus.
  • To categorize identified mutations and explore potential shared pathways or mechanisms.
  • To assess the current clinical utility and future implications of genetic findings in SE.

Main Methods:

  • Systematic literature search for genetic mutations linked to status epilepticus.
  • Inclusion criteria: SE specifically mentioned in genetic databases, case reports, or reviews.
  • Categorization of identified genes based on associated conditions (e.g., cortical dysplasias, metabolic disorders).

Main Results:

  • Mutations in 122 genes were identified, predominantly in rare conditions affecting infants and young children with multiple comorbidities.
  • Identified genes fall into categories such as cortical dysplasias, inborn errors of metabolism, mitochondrial disease, and epileptic encephalopathies.
  • No 'pure status epilepticus genes' were found; genetic influences appear diverse, involving development, metabolism, and network function.
  • Few genes are associated with adult-onset SE, and current genetic knowledge has limited clinical impact.

Conclusions:

  • Status epilepticus likely arises from a wide array of genetic factors affecting diverse biological pathways, rather than a single cause or failure of seizure termination.
  • Cerebral development genes suggest SE may often be a system or network phenomenon.
  • The genetic landscape of SE differs from that of epilepsy, indicating distinct pathophysiological processes.
  • Current genetic insights into SE have minimal clinical utility, highlighting the need for further research, particularly into adult-onset SE and potential immunological links.