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What are the epileptic encephalopathies?

Marina Trivisano¹, Nicola Specchio

¹Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Current Opinion in Neurology

|February 13, 2020

Summary

The concept of epileptic encephalopathy has evolved, with the International League Against Epilepsy classifying developmental and epileptic encephalopathies (DEE). Early DEE cause identification may enable targeted treatments for cognitive and seizure improvements.

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Area of Science:

Neurology
Developmental Neuroscience
Epilepsy Research

Background:

Developmental delay in children with epilepsy can stem from its cause, epileptiform activity, or both.
The International League Against Epilepsy (ILAE) classification now includes developmental and epileptic encephalopathy (DEE).

Purpose of the Study:

To review the historical evolution of the epileptic encephalopathy concept.
To analyze the impact of the current DEE definition on clinical practice and research.

Main Methods:

Review of the evolution of epileptic encephalopathy concepts.
Analysis of the ILAE classification of DEE.
Exploration of potential DEE pathogenetic mechanisms.

Main Results:

DEE encompasses conditions where developmental delay, epilepsy, and encephalopathy coexist.
Potential DEE pathogenesis involves pathways like DNA repair, transcriptional regulation, and myelination.
Epilepsy and epileptiform discharges may impact cognition through various, not fully understood, mechanisms.

Conclusions:

Accurate and early DEE cause identification is crucial for targeted treatment strategies.
Intervening in DEE's neurobiological processes offers the best approach to improve cognitive deficits and epilepsy.