Evidence map›Paper›PMID 41777492›Full record

ArticleNoro psikiyatri arsivi2026

Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.

Nilüfer Eldes Hacıfazlıoğlu, Emek Uyur, Derya Güder, Kutlay Gür, Olcay Ünver, Yüksel Yılmaz

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Article in Noro psikiyatri arsivi, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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6 authors.

Nilüfer Eldes HacıfazlıoğluDepartment of Pediatric Neurology, University of Health Sciences, Zeynep Kamil Maternity and Children Hospital, Istanbul, Türkiye.
Emek UyurDepartment of Pediatric Neurology, Zeynep Kamil Maternity and Children Hospital, Istanbul, Türkiye.
Derya GüderDepartment of Pediatric Neurology, Mardin Training and Research Hospital, Mardin, Türkiye.
Kutlay GürIskenderun State Hospital, Iskenderun, Türkiye.
Olcay ÜnverRetired Faculty Member, Department of Pediatric Neurology, Marmara University, İstanbul, Türkiye.
Yüksel YılmazRetired Faculty Member, Department of Pediatric Neurology, Marmara University, İstanbul, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Infantile Epileptic Spasms Syndrome (IESS) is an age-related developmental and epileptic encephalopathy that may be resistant to treatment and can negatively affect neurodevelopment. The classification of the etiology of IESS is important for its treatment, considering prognosis, and for future studies. The present study aimed to investigate the difficulties in etiologic classification of IESS based on the International League Against Epilepsy (ILAE, 2017). Methods: The data of patients diagnosed with IESS between 2014 and 2023 were reviewed retrospectively. The diagnosis of IESS was made by the presence of epileptic spasm and/or hypsarrhythmia on electroencephalography (EEG). Etiological classification was made based on the 2017 (ILAE) etiologic classification and the difficulties encountered were examined. Results: In this study, 108 patients, 63 (%58) girls and (%42)45 boys, with a mean age of 22±13 (3-72) months, were included. The etiology remained unclear in 30 patients (27.7%) and was detected in 78 patients (72.2%). The underlying causes of patients were genetic 16 (14.8%), structural 57 (61.5%), inherited metabolic diseases 4 (3.7%), and infectious 1 (0.9%). Congenital metabolic diseases were included in the metabolic diseases group. Since different etiologies could cause IESS, either alone or in combination, difficulties were encountered especially in grouping the patients with a genetic origin of the disease, resulting in structural anomalies and inherited metabolic diseases. Conclusion: The basic difficulty encountered during the ILAE classification of this large group of patients was to classify the genetic causes that result in structural anomalies and congenital metabolic diseases. Previous experience, along with the findings of the present study, suggest that ILAE 2017 etiologic classification may be revised, genetic reasons resulting in structural and/or metabolic abnormalities should be classified under the name of genetic origin and that genetic titles should be divided into subgroups such as genetic metabolic, genetic structural, and other genetic categories.

Indexed as

EpilepsyInfantileSpasm

Identifiers

PMID41777492
PMCPMC12951502

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