Epileptic Encephalopathies in Adulthood

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: 30 June 2025 | Viewed by 2738

Special Issue Editors


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Guest Editor
1st Department of Neurology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
Interests: clinical neurophysiology; epileptology; computational neuroscience, non-invasive brain stimulation; transcranial magnetic stimulation

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Guest Editor
1st Department of Neurology, Aristotle University of Thessaloniki, 54124 Thessaloniki, Greece
Interests: clinical neurophysiology; epileptology; neurometabolic diseases; dietary therapies for epilepsy in adults

Special Issue Information

Dear Colleagues,

In recent years, and thanks to the continuous efforts of the ILAE and prominent experts in the field, the concept of developmental and epileptic encephalopathies (DEEs) has been set as a heterogeneous group of severe, rare and complex epilepsies characterized by early onset, usually drug-resistant seizures, specific EEG abnormalities, and encephalopathy. The concept was further refined so that the term developmental encephalopathy (DE) refers to cases where the developmental delay is the direct result of the underlying cause of epilepsy, and the epileptiform activity has a minimal effect on brain function. In contrast, the term epileptic encephalopathy (EE) applies when the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond those expected from the underlying etiology alone.

The etiology of epileptic encephalopathies (EEs) can be genetic, acquired, or both, and may occur in the background of normal or abnormal brain development.

Epileptic encephalopathies in adulthood are rarely tested genetically and often remain undiagnosed. There is a limited number of studies describing the electroclinical phenotype–genotype relationship, and the disease course in this age group of patients.

The recognition of a particular electroclinical phenotype–genotype relationship in adults with EEs will provide more information and allow for better clinical management and prediction of their outcome. The recent progress in genetic testing and the development of precision medicine approaches will undoubtedly be an important step forward for the most effective treatment and a better quality of life in adult patients with EEs.

The purpose of this Special Issue is to provide novel insights on the evolving field of epileptic encephalopathies in adulthood by precisely defining the adult electroclinical phenotype–genotype relationship and highlighting potential therapeutic targets based on phenotype–genotype correlations. Another important aspect of this Special Issue relates to the transition process of patients with rare and complex epilepsies from childhood to adulthood, a process that should certainly employ a multidisciplinary and holistic approach.

With these thoughts in mind, we invite you to submit manuscripts for this Special Issue, entitled “Epileptic Encephalopathies in Adulthood”. Full papers, brief communications, case reports, reviews, and retrospective analyses are all welcome.

Prof. Dr. Vasilios K. Kimiskidis
Dr. Martha G. Spilioti
Guest Editors

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Keywords

  • developmental and epileptic encephalopathy (DEE)
  • epileptic encephalopathies (EEs)
  • adult electroclinical phenotype–genotype correlation
  • transitional care
  • precision medicine therapies
  • multidisciplinary approach
  • outcome of EEs

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Published Papers (2 papers)

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Research

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12 pages, 1192 KiB  
Article
Dose-Dependent Induction of Differential Seizure Phenotypes by Pilocarpine in Rats: Considerations for Translational Potential
by Dolika Vasović, Olivera Stanojlović, Dragan Hrnčić, Nikola Šutulović, Milena Vesković, Aleksandar J. Ristić, Nebojša Radunović and Dušan Mladenović
Medicina 2024, 60(10), 1579; https://doi.org/10.3390/medicina60101579 - 26 Sep 2024
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Abstract
Background and Objectives: Pilocarpine is used in experimental studies for testing antiepileptic drugs, but further characterization of this model is essential for its usage in testing novel drugs. The aim of our study was to study the behavioral and EEG characteristics of [...] Read more.
Background and Objectives: Pilocarpine is used in experimental studies for testing antiepileptic drugs, but further characterization of this model is essential for its usage in testing novel drugs. The aim of our study was to study the behavioral and EEG characteristics of acute seizures caused by different doses of pilocarpine in rats. Materials and Methods: Male Wistar rats were treated with a single intraperitoneal dose of 100 mg/kg (P100), 200 mg/kg (P200), or 300 mg/kg (P300) of pilocarpine, and epileptiform behavior and EEG changes followed within 4 h. Results: The intensity and the duration of seizures were significantly higher in P300 vs. the P200 and P100 groups, with status epilepticus dominating in P300 and self-limiting tonic–clonic seizures in the P200 group. The seizure grade was significantly higher in P200 vs. the P100 group only during the first hour after pilocarpine application. The latency of seizures was significantly shorter in P300 and P200 compared with P100 group. Conclusions: Pilocarpine (200 mg/kg) can be used as a suitable model for the initial screening of potential anti-seizure medications, while at a dose of 300 mg/kg, it can be used for study of the mechanisms of epileptogenesis. Full article
(This article belongs to the Special Issue Epileptic Encephalopathies in Adulthood)
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Review

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19 pages, 841 KiB  
Review
How Encephalopathy Impacts Language Ability: A Scoping Review of the Linguistic Abilities of Adults with Developmental and Epileptic Encephalopathy
by Ioanna Papatheodorou, Stavroula Stavrakaki, Vasiliki Koukoulioti, Martha Spilioti and Vasileios Kimiskidis
Medicina 2024, 60(10), 1635; https://doi.org/10.3390/medicina60101635 - 6 Oct 2024
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Abstract
Background and Objectives: Developmental and epileptic encephalopathy refers to a group of conditions where patients experience abnormal development due to various causes as well as frequent epileptiform discharges that ultimately contribute, in an independent and additive fashion, to cognitive and linguistic impairments. [...] Read more.
Background and Objectives: Developmental and epileptic encephalopathy refers to a group of conditions where patients experience abnormal development due to various causes as well as frequent epileptiform discharges that ultimately contribute, in an independent and additive fashion, to cognitive and linguistic impairments. The language and cognition outcome of these patients in adulthood has been understudied. This paper aims to present a scoping review of linguistic abilities in adults with developmental and epileptic encephalopathy to determine the extent to which language outcomes in adulthood and their relation to cognitive outcomes have been studied. Design: Two online databases were searched and the methodological framework by Arksey & O’Malley (2005) was adopted. Results: Out of the 27 selected studies, only 13 exclusively examined adults, 15 were group studies, 5 were case studies and 7 were case series. A total of 9 out of the 15 group studies provided individual results for adults. Twenty-two studies included a follow-up examination. Twenty-three studies addressed the relationship between language and cognition. The selected studies indicate the presence of language impairments, which are nevertheless differentially manifested in the syndromes under investigation, whereas individual variability is also reported. Aspects of cognition seem to correlate with linguistic abilities. Conclusions: In sum, despite variability in linguistic abilities, language deficits constitute a significant aspect of the clinical profile of many adults with developmental and epileptic encephalopathy, a finding that should be taken into account for the treatment protocols of these individuals. Full article
(This article belongs to the Special Issue Epileptic Encephalopathies in Adulthood)
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