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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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Postsynaptic Potential (PSP)01:32

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Postsynaptic potential (PSP) refers to a change in the electrical potential of a neuron when neurotransmitters released by presynaptic neurons bind to postsynaptic receptors. This potential can either be excitatory, leading to depolarization and ultimately action potential generation, or inhibitory, leading to hyperpolarization and suppression of the postsynaptic neuron.
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Related Experiment Video

Updated: Nov 27, 2025

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Developmental and epileptic encephalopathies: what we do and do not know.

Nicola Specchio1, Paolo Curatolo2

  • 1Department of Neuroscience, Bambino Gesu Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE, Piazza S, 00165 Rome, Italy.

Brain : a Journal of Neurology
|December 6, 2020
PubMed
Summary

Infant epilepsy is often linked to developmental encephalopathies. The term "developmental and epileptic encephalopathy" better reflects the complex relationship and guides improved genetic testing and treatments.

Keywords:
developmental and epileptic encephalopathyencephalopathyepileptic seizuresinfantneurodevelopment disorders

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Developmental encephalopathies, such as intellectual disability and autism, frequently co-occur with infant epilepsy.
  • The term 'epileptic encephalopathy' implies a direct causal link from epilepsy to developmental delay.
  • Evidence suggests developmental encephalopathies can occur independently of epilepsy, challenging the traditional term.

Purpose of the Study:

  • To propose 'developmental and epileptic encephalopathy' as a more accurate term than 'epileptic encephalopathy'.
  • To review gene variants associated with both conditions to support this terminology.
  • To explore the interaction between epilepsy and developmental encephalopathies in treatment decisions.

Main Methods:

  • Review of scientific literature on gene variants linked to developmental encephalopathies and epilepsy.
  • Analysis of cases demonstrating developmental encephalopathies without epilepsy.
  • Consideration of seizure control's impact on developmental trajectory.

Main Results:

  • Identification of numerous gene variants associated with both developmental encephalopathies and epilepsy.
  • Observation of developmental encephalopathies persisting even with controlled seizures.
  • Gene variants can cause developmental encephalopathies independently of epilepsy.

Conclusions:

  • 'Developmental and epileptic encephalopathy' is a more fitting term, acknowledging the complex interplay.
  • Understanding genetic underpinnings is crucial for accurate diagnosis and treatment.
  • Advancements in genetic testing promise earlier diagnosis and targeted therapies.