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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.
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Focal Seizures
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Antiepileptic Drugs: GABAergic Pathway Potentiators01:18

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γ-aminobutyric acid or GABA, plays a pivotal role as an inhibitory neurotransmitter in the brain. GABA pathway potentiators, also known as GABAergic drugs, are a class of pharmaceutical agents designed to enhance the functioning of the GABAergic system. These medications primarily treat epilepsy, a neurological disorder characterized by recurrent seizures.
The key GABA pathway potentiators used in epilepsy management are as follows.
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Continuous Video Electroencephalogram during Hypoxia-Ischemia in Neonatal Mice
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Neonatal Developmental and Epileptic Encephalopathies.

Charbel El Kosseifi1, Marie-Coralie Cornet2, Maria Roberta Cilio3

  • 1Catholic University of Louvain, Cliniques Universitaires Saint Luc, Brussels, Belgium.

Seminars in Pediatric Neurology
|December 10, 2019
PubMed
Summary

Developmental and epileptic encephalopathy links genetic mutations to both epilepsy and developmental impairment. This understanding is crucial for families and clinicians managing these complex neurological conditions.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Genetic epilepsies often present with developmental impairment, stemming from both the primary genetic defect and the impact of seizures on brain development.
  • Conditions like KCNQ2 or STXBP1 encephalopathy exemplify how developmental consequences can persist despite seizure control.
  • The concept of developmental and epileptic encephalopathy unifies the understanding of these intertwined neurological issues.

Purpose of the Study:

  • To introduce and define the concept of developmental and epileptic encephalopathy.
  • To highlight the dual role of genetic defects in causing both epilepsy and developmental impairment.
  • To emphasize the importance of this concept for clinical and familial understanding.

Main Methods:

  • Review of current understanding of genetic epilepsies and developmental outcomes.
  • Analysis of specific genetic encephalopathies (e.g., KCNQ2, STXBP1) as illustrative examples.
  • Integration of findings from advanced diagnostic tools like EEG, neuroimaging, and genetic testing.

Main Results:

  • Genetic mutations are recognized as direct causes of both epileptic activity and developmental impairment.
  • Developmental consequences in conditions like KCNQ2/STXBP1 encephalopathy can be profound and lasting.
  • Advances in neonatal diagnostics have refined the classification of neonatal-onset epilepsies into specific phenotypes.

Conclusions:

  • The term 'developmental and epileptic encephalopathy' provides a crucial framework for understanding the disease process.
  • Recognizing the genetic basis for both epilepsy and developmental issues is vital for effective management and support.
  • Evolving diagnostic capabilities enhance the identification and characterization of distinct etiology-specific electroclinical phenotypes.